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Canadian Journal of Cardiology

Canadian Cardiovascular Society 2022 Guidelines for Cardiovascular Interventions in Adults With Congenital Heart Disease∗

Published:April 20, 2022DOI:https://doi.org/10.1016/j.cjca.2022.03.021

      Abstract

      Interventions in adults with congenital heart disease (ACHD) focus on surgical and percutaneous interventions in light of rapidly evolving ACHD clinical practice. To bring rigour to our process and amplify the cumulative nature of evidence ACHD care we used the ADAPTE process; we systematically adjudicated, updated, and adapted existing guidelines by Canadian, American, and European cardiac societies from 2010 to 2020. We applied this to interventions related to right and left ventricular outflow obstruction, tetralogy of Fallot, coarctation, aortopathy associated with bicuspid aortic valve, atrioventricular canal defects, Ebstein anomaly, complete and congenitally corrected transposition, and patients with the Fontan operation. In addition to tables indexed to evidence, clinical flow diagrams are included for each lesion to facilitate a practical approach to clinical decision-making. Excluded are recommendations for pacemakers, defibrillators, and arrhythmia-directed interventions covered in separate designated documents. Similarly, where overlap occurs with other guidelines for valvular interventions, reference is made to parallel publications. There is a paucity of high-level quality of evidence in the form of randomized clinical trials to support guidelines in ACHD. We accounted for this in the wording of the strength of recommendations put forth by our national and international experts. As data grow on long-term follow-up, we expect that the evidence driving clinical practice will become increasingly granular. These recommendations are meant to be used to guide dialogue between clinicians, interventional cardiologists, surgeons, and patients making complex decisions relative to ACHD interventions.

      Résumé

      Les interventions chez les adultes atteints de cardiopathie congénitale (AACC) sont axées sur des interventions chirurgicales et percutanées, tenant compte de l'évolution rapide de la pratique clinique dans ce domaine. Afin d'apporter une certaine rigueur à notre démarche et d'amplifier la propension cumulative des données probantes concernant les AACC, nous avons utilisé le processus ADAPTE; nous avons systématiquement évalué, mis à jour et adapté les lignes directrices existantes des sociétés de cardiologie canadiennes, américaines et européennes de 2010 à 2020. Nous avons appliqué cette méthode aux interventions liées à l'obstruction du débit ventriculaire droit et gauche, à la tétralogie de Fallot, à la coarctation, à l'aortopathie associée à une dysfonction de la valve aortique bicuspide, aux anomalies du canal auriculo-ventriculaire, à l'anomalie d'Ebstein, à la transposition congénitale complète corrigée, et aux patients ayant subi une intervention de Fontan. En plus des tables indexées aux évidences, des diagrammes de flux cliniques sont inclus pour chaque affection afin de faciliter une approche pratique de la prise de décision clinique. En sont exclues : les recommandations concernant les stimulateurs cardiaques, les défibrillateurs et les interventions dirigées envers les arythmies, qui font l'objet de documents distincts. De la même façon, en cas de chevauchement avec d'autres directives sur les interventions valvulaires, il est fait référence à des publications parallèles. Il y a une pénurie d’évidences de haute qualité sous forme d'essais cliniques randomisés pour appuyer les lignes directrices concernant les AACC. Nous en avons tenu compte dans la formulation de l’amplitude des recommandations formulées par nos experts nationaux et internationaux. Au fur et à mesure que les données sur le suivi à long terme s'accumulent, nous nous attendons à ce que les preuves à la base de la pratique clinique deviennent de plus en plus granulaires. Ces recommandations sont destinées à guider la discussion entre les cliniciens, les cardiologues interventionnels, les chirurgiens et les patients qui doivent prendre des décisions complexes concernant les interventions chez les AACC.
      The first Consensus Conference on the care of adults with congenital heart disease (ACHD) patients was led by Dr Gary Webb and held in Canada in 1996, with the proceedings published in l998.
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      We dedicate this guideline document to his memory. Without his lifelong contributions, we would not be here today assembling this body of knowledge.
      The Canadian Adult Congenital Heart Network, known as the CACH Network, was recognized as a Canadian Cardiovascular Society (CCS) affiliate in 2010. Its current board members largely constitute the primary writing panel of these guidelines.
      First-time empirical population-based measurements showing an increasing prevalence of ACHD were published using Canadian data sources.
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      In Canada, cost containment for populations with chronic, lifelong morbidity challenges our ability to sustain delivery of high quality care.
      Institute of Health Economics Alberta/Canada
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      In ACHD populations, significant increases in health services utilization have been shown during childhood,
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      during transitions in care,
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      Children and adults with congenital heart disease lost to follow-up: who and when?.
      in adulthood,
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      Heathcare resource utilization in adults with congenital heart disease: a population-based study.
      and into the geriatric years,
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      • Martucci G.
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      Geriatric congenital heart disease burden of disease and predictors of mortality.
      with national trends of increasing costs well shown using Canadian Institute for Health Information data for CHD populations.
      • Islam S.
      • Yasui Y.
      • Kaul P.
      • Marelli A.J.
      • Mackie A.S.
      Congenital heart disease hospitalizations in Canada: a 10-year experience.
      International data sources have shown increasing health services utilization for a growing population of ACHD patients with heart failure (HF).
      • Rodriguez 3rd, F.H.
      • Marelli A.J.
      The epidemiology of heart failure in adults with congenital heart disease.
      With this set of guidelines, we turn our attention to the need for interventions occurring as a result of the mounting burden of comorbidities. Specifically excluded from this update are recommendations for arrhythmias, pacemakers, intracardiac cardioverter-defibrillators, cardiac resynchronization therapy, and specific arrhythmias or arrhythmia-directed surgical interventions because these have been comprehensively covered elsewhere in the field of ACHD with a dedicated group of experts.
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      • et al.
      PACES/HRS expert consensus statement on the recognition and management of arrhythmias in adult congenital heart disease: developed in partnership between the Pediatric and Congenital Electrophysiology Society (PACES) and the Heart Rhythm Society (HRS). Endorsed by the governing bodies of PACES, HRS, the American College of Cardiology (ACC), the American Heart Association (AHA), the European Heart Rhythm Association (EHRA), the Canadian Heart Rhythm Society (CHRS), and the International Society for Adult Congenital Heart Disease (ISACHD).
      Well established in our growing armamentarium of procedures, ACHD patients have benefited from catheter-based interventions for more than a decade
      • Inglessis I.
      • Landzberg M.J.
      Interventional catheterization in adult congenital heart disease.
      while improvements in advanced imaging capabilities have increased the reach of percutaneous procedures in CHD.
      • Tandon A.
      • Burkhardt B.E.U.
      • Batsis M.
      • et al.
      Sinus venosus defects: anatomic variants and transcatheter closure feasibility using virtual reality planning.
      A growing need for valvular reinterventions particularly in adults will spur nimble adaptation of existing valvular interventions to a growing set of novel tools.
      • Ionescu-Ittu R.
      • Mackie A.S.
      • Abrahamowicz M.
      • et al.
      Valvular operations in patients with congenital heart disease: increasing rates from 1988 to 2005.
      • Uemura H.
      Surgical and catheter procedures in adult congenital heart disease: simple national statistics of the UK tell us something.
      • Agasthi P.
      • Ashraf H.
      • Pujari S.H.
      • et al.
      Artificial intelligence trumps TAVI2-SCORE and CoreValve Score in predicting 1-year mortality post transcatheter aortic valve replacement.
      Even so, although the profile of surgical practice in ACHD is changing, the need for surgical reinterventions has remained significant.
      • Srinathan S.K.
      • Bonser R.S.
      • Sethia B.
      • Thorne S.A.
      • Brawn W.J.
      • Barron D.J.
      Changing practice of cardiac surgery in adult patients with congenital heart disease.
      The lag-time between the clinical complications related to past interventions makes CHD surgery a challenge.
      • Warnes C.A.
      Adult congenital heart disease: the challenges of a lifetime.
      The risk stratification in ACHD patients undergoing cardiac surgery remains important but difficult.
      • Fuller S.M.
      • He X.
      • Jacobs J.P.
      • et al.
      Estimating mortality risk for adult congenital heart surgery: an analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database.
      The expectation is that individualized and validated risk-adjusted outcomes
      • Jacobs J.P.
      • Mavroudis C.
      • Quintessenza J.A.
      • et al.
      Reoperations for pediatric and congenital heart disease: an analysis of the Society of Thoracic Surgeons (STS) congenital heart surgery database.
      would add counterpoint to the broad recommendations made in heterogeneous adult populations to mitigate morbidity observed during ACHD surgical admissions.
      • Setton M.
      • He W.
      • Benavidez O.J.
      Morbidity during adult congenital heart surgery admissions.
      Robust scientific inquiry is new to ACHD compared with other cardiovascular diseases. Increasingly heterogeneous in age, lesion subgroup, surgical history, and propensity to specific comorbidities, in an era that saw an explosion of clinical trials in adult cardiovascular medicine, ACHD patients were either systematically excluded from ongoing experimental analyses of medical or interventional therapies or failed to meet the subgroup sample size threshold needed to achieve meaningful data interpretation. With the exception of specific areas like pulmonary hypertension,
      • Gatzoulis M.A.
      • Beghetti M.
      • Galie N.
      • et al.
      Longer-term bosentan therapy improves functional capacity in Eisenmenger syndrome: results of the BREATHE-5 open-label extension study.
      truly prospective randomized controlled trials (RCTs) are scant in ACHD even for common lesions and common medications.
      • Oster M.
      • Bhatt A.B.
      • Zaragoza-Macias E.
      • Dendukuri N.
      • Marelli A.
      Interventional therapy versus medical therapy for secundum atrial septal defect: a systematic review (part 2) for the 2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      For comparative purposes, over a 10-year period from 2007 to 2017, a Medline and PubMed search with uniformly applied concept filters in adults 18 years and older revealed > 2000 RCTs for coronary artery disease. During the same time frame, there were only 165 RCTs in ACHD patients, a number that fell to 15 after exclusion of trials related to pulmonary hypertension, bicuspid aortic valve (BAV), and Marfan syndrome, or trials only reporting “rationale and design.”
      • Marelli A.
      The future of adult congenital heart disease research: precision health services delivery for the next decade.
      Whereas the class of recommendation reflects the expected size of the treatment effect, the level of evidence reflects the certainty of the expected treatment effect.
      • Jacobs A.K.
      • Kushner F.G.
      • Ettinger S.M.
      • et al.
      ACCF/AHA clinical practice guideline methodology summit report: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines.
      The Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach defines the strength of a recommendation as the extent to which we can be confident that adherence to the recommendation will do more good than harm and the quality of evidence as a measure of the extent to which we can be confident that an estimate of effect is correct.
      • Atkins D.
      • Eccles M.
      • Flottorp S.
      • et al.
      Systems for grading the quality of evidence and the strength of recommendations I: critical appraisal of existing approaches The GRADE Working Group.
      In ACHD guidelines, recommendations have largely been classified as class 1, although supported by a level of evidence that is B or C. Thus, relative to the treatment effect, recommendations are largely deployed with a mismatch between its expected size and the level certainty of the data supporting it. Despite enormous progress, at this time, as a field we lag significantly behind our adult colleagues in performing cardiovascular trials that would allow us to generate evidence comparable to that existing in non-CHD populations.
      The current guidelines were developed for general cardiologists and the community of ACHD specialists. We involved a primary writing panel and subsequently engaged a secondary panel including interventionalists to review our recommendations in 2 rounds. Finally, we had our guideline reviewed by an international panel of experts. We used the rigourous process of the ADAPTE methodology to review previous recommendations as well as those of the American College of Cardiology/American Heart Association, accepting or rejecting a previous guideline and updating the recommendations where new evidence was available. Results of the ADAPTE process are presented in Supplemental Appendix S1. We sought a clear presentation of the material using tables and clinical decision diagrams for ease of reference. We specified applicability as necessary. Thus, our guideline adheres to the Appraisal of Guidelines for Research Evaluation (AGREE) instrument
      AGREE Collaboration
      Development and validation of an international appraisal instrument for assessing the quality of clinical practice guidelines: the AGREE project.
      for assessing guidelines as adopted by the CCS.
      • Stone J.
      • Austford L.
      • Parker J.H.
      • et al.
      AGREEing on Canadian cardiovascular clinical practice guidelines.
      Supplemental Appendix S2 shows the recommendations using class and GRADE.
      Despite the persistent and substantial knowledge-to-evidence gap that continues to persist in ACHD care where small numbers harbor the difficulty in carrying out internally valid studies in a heterogeneous patient population, we have generated conservative guidelines focused on interventions. We recognize that the personalized application to individual patients remains in the hands of well trained, well informed clinicians functioning in multidisciplinary teams, where the range of perspectives gives depth to the complex decisions that must be made.

      Atrial Septal Defect

      Background

      Atrial septal defect (ASD) is the most common type of congenital heart lesion presenting in the adult.
      • Perloff J.K.
      • Marelli A.
      Chapter 15: atrial septal defect: simple and complex.
      There are 4 types of inter-atrial communications: 2 “true” ASDs due to a deficiency in atrial septal tissue, the secundum ASD and the partial atrioventricular (AV) septal defect (AVSD; also known as primum ASD), and 2 other communications, the sinus venosus defect (superior and inferior), and the unroofed coronary sinus defect. Anatomy is important because there are differences in the natural history and indications for closure. Secundum ASD accounts for 80% of inter-atrial communications and management guidelines often focus on the secundum ASD (Fig. 1).
      Figure thumbnail gr1
      Figure 1Various types of atrial septal defects. 1, type secundum; 2, type primum (incomplete atrioventricular septal defect); 3, type sinus venosus superior; 4, type sinus venosus inferior; and 5, unroofed coronary sinus defect.
      Reproduced from Popelová et al.
      • Popelová J.
      • Oechslin E.
      • Kaemmerer H.
      • St John Sutton M.G.
      • Žáček P.
      Congenital Heart Disease in Adults.
      with permission of the Licensor through PLSclear. © 2008 Informa UK Ltd.

      Clinical presentation

      Presentation varies from asymptomatic patients to those with functional decline, arrhythmias, HF and/or, rarely, pulmonary arterial hypertension (PAH).
      • Perloff J.K.
      • Marelli A.
      Chapter 15: atrial septal defect: simple and complex.
      Patients whose inter-atrial communications are unrepaired, or repaired at a late age, have increased morbidity and mortality compared with an age-matched population.

      Recommendations for intervention

      Indications for closure are driven by presence of symptoms and/or evidence of a hemodynamically significant shunt in the absence of irreversible pulmonary vascular disease.
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Baumgartner H.
      • Bonhoeffer P.
      • De Groot N.M.
      • et al.
      ESC guidelines for the management of grown-up congenital heart disease (new version 2010).
      An ASD is considered hemodynamically significant if there is evidence of right ventricular (RV) enlargement and/or pulmonary flow (Qp):systemic flow (Qs) ≥ 1.5. Although this is the case for most hemodynamically significant shunts, exceptions might arise when PAH is present. The presence of pulmonary vascular disease is identified by assessing pulmonary pressures, vascular resistance, and shunt ratio between the pulmonary and systemic circulations. Patients with hemodynamically significant shunts who do not undergo closure have worse long-term outcomes compared with an age-matched population, with reduced functional capacity, more arrhythmias, progressive PAH, and increased mortality.
      • Oster M.
      • Bhatt A.B.
      • Zaragoza-Macias E.
      • Dendukuri N.
      • Marelli A.
      Interventional therapy versus medical therapy for secundum atrial septal defect: a systematic review (part 2) for the 2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      • Shah D.
      • Azhar M.
      • Oakley C.M.
      • Cleland J.G.
      • Nihoyannopoulos P.
      Natural history of secundum atrial septal defect in adults after medical or surgical treatment: a historical prospective study.
      • Nyboe C.
      • Karunanithi Z.
      • Nielsen-Kudsk J.E.
      • Hjortdal V.E.
      Long-term mortality in patients with atrial septal defect: a nationwide cohort-study.
      • Brochu M.C.
      • Baril J.F.
      • Dore A.
      • Juneau M.
      • De Guise P.
      • Mercier L.A.
      Improvement in exercise capacity in asymptomatic and mildly symptomatic adults after atrial septal defect percutaneous closure.
      • Attie F.
      • Rosas M.
      • Granados N.
      • Zabal C.
      • Buendia A.
      • Calderon J.
      Surgical treatment for secundum atrial septal defects in patients > 40 years old. A randomized clinical trial.
      • Roos-Hesselink J.W.
      • Meijboom F.J.
      • Spitaels S.E.
      • et al.
      Excellent survival and low incidence of arrhythmias, stroke and heart failure long-term after surgical ASD closure at young age. A prospective follow-up study of 21-33 years.
      Closure before the age of 15-25 years is associated with improved patient survival.
      • Murphy J.G.
      • Gersh B.J.
      • McGoon M.D.
      • et al.
      Long-term outcome after surgical repair of isolated atrial septal defect. Follow-up at 27 to 32 years.
      ,
      • Cuypers J.A.
      • Opic P.
      • Menting M.E.
      • et al.
      The unnatural history of an atrial septal defect: longitudinal 35 year follow up after surgical closure at young age.
      Long-term benefits after closure in patients older than 40 years of age include improved functional capacity, favourable RV remodelling, reduction in pulmonary pressures, and reduced arrhythmia burden. However, the evidence for improved survival is less robust.
      • Oster M.
      • Bhatt A.B.
      • Zaragoza-Macias E.
      • Dendukuri N.
      • Marelli A.
      Interventional therapy versus medical therapy for secundum atrial septal defect: a systematic review (part 2) for the 2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Humenberger M.
      • Rosenhek R.
      • Gabriel H.
      • et al.
      Benefit of atrial septal defect closure in adults: impact of age.
      Some patients might have other indications for closure such as prevention of recurrent paradoxical embolism, prophylaxis against paradoxical emboli in the presence of a permanent transvenous pacing electrode or indwelling catheter, or for treatment of orthodeoxia-platypnea syndrome. Considerations for closure need to be made in the context of the patient’s clinical status, comorbidities, and risk associated with method of closure.
      For secundum ASD, depending on size and anatomic features, percutaneous device or surgery may be used. For percutaneous closure, a secundum ASD typically should be smaller than 38 mm, with adequately-sized rims.
      • Amin Z.
      • Hijazi Z.M.
      • Bass J.L.
      • Cheatham J.P.
      • Hellenbrand W.E.
      • Kleinman C.S.
      Erosion of Amplatzer septal occluder device after closure of secundum atrial septal defects: review of registry of complications and recommendations to minimize future risk.
      If anatomic features are favourable, percutaneous closure is preferred because it is associated with lower rates of mortality and major morbidity as well as shorter hospital stay compared with surgical closure.
      • Villablanca P.A.
      • Shah K.
      • Briston D.A.
      • et al.
      Treatment options for the closure of secundum atrial septal defects: a systematic review and meta-analysis.
      In some patients with elevated pulmonary pressures, a fenestrated device may be considered. Percutaneous device closure requires technical expertise and equipment, with the best outcomes seen in higher-volume centres.
      • Singh V.
      • Badheka A.O.
      • Patel N.J.
      • et al.
      Influence of hospital volume on outcomes of percutaneous atrial septal defect and patent foramen ovale closure: a 10-years US perspective.
      Surgical repair is generally required for primum ASD, sinus venosus defect, and unroofed coronary sinus defect, because these defects typically are not amenable to percutaneous closure, although emerging data indicate that some patients with sinus venosus defect might be suitable for percutaneous intervention.
      • Hansen J.H.
      • Duong P.
      • Jivanji S.G.M.
      • et al.
      Transcatheter correction of superior sinus venosus atrial septal defects as an alternative to surgical treatment.
      ,
      • Benson L.
      • Horlick E.
      • Osten M.
      Percutaneous repair of the sinus venosus atrial defect: usus est magister optimus.
      Surgical repair of interatrial communications should be performed by operators with expertise in congenital heart surgery.
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      For patients who do not meet criteria for closure, ongoing follow-up is recommended. When PAH is present, we recommend referral to a specialized centre to determine if medical therapy might be indicated to determine candidacy for closure.
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      In patients with small, hemodynamically insignificant shunts, overall prognosis might be favourable; however, intermittent follow-up long-term, and referral at least once to be seen by an ACHD specialist is warranted. (Table 1, Fig. 2).
      Table 1Recommendations for intervention in adults with ASDs
      RecommendationsGRADEReferences
      StrengthQuality
      1We recommend closure of an ASD (secundum ASD, partial AVSD, sinus venosus defect, or unroofed coronary sinus) in a symptomatic patient with a net left-to-right hemodynamically significant shunt (RV enlargement and/or Qp:Qs ≥ 1.5
      For closure of an ASD in the patient with a net left-to-right hemodynamically significant shunt and RV enlargement, a Qp:Qs measurement might not be necessary in decision-making.
      ) when the PAP is < 50% of systemic pressure, and/or PVR is < 1/3 SVR.
      StrongModerate
      • Shah D.
      • Azhar M.
      • Oakley C.M.
      • Cleland J.G.
      • Nihoyannopoulos P.
      Natural history of secundum atrial septal defect in adults after medical or surgical treatment: a historical prospective study.
      ,
      • Brochu M.C.
      • Baril J.F.
      • Dore A.
      • Juneau M.
      • De Guise P.
      • Mercier L.A.
      Improvement in exercise capacity in asymptomatic and mildly symptomatic adults after atrial septal defect percutaneous closure.
      • Attie F.
      • Rosas M.
      • Granados N.
      • Zabal C.
      • Buendia A.
      • Calderon J.
      Surgical treatment for secundum atrial septal defects in patients > 40 years old. A randomized clinical trial.
      • Roos-Hesselink J.W.
      • Meijboom F.J.
      • Spitaels S.E.
      • et al.
      Excellent survival and low incidence of arrhythmias, stroke and heart failure long-term after surgical ASD closure at young age. A prospective follow-up study of 21-33 years.
      ,
      • Altindag T.
      • Roos-Hesselink J.W.
      • Cuypers J.A.
      • et al.
      Transcatheter device closure of atrial septal defects in patients aged 40 years and older.
      • Varma C.
      • Benson L.N.
      • Silversides C.
      • et al.
      Outcomes and alternative techniques for device closure of the large secundum atrial septal defect.
      • Du Z.D.
      • Cao Q.L.
      • Rhodes J.
      • Heitschmidt M.
      • Hijazi Z.M.
      Choice of device size and results of transcatheter closure of atrial septal defect using the amplatzer septal occluder.
      • Gajjar T.P.
      • Hiremath C.S.
      • Desai N.B.
      Surgical closure of sinus venosus atrial septal defect using a single patch--transcaval repair technique.
      2We suggest that closure of an ASD (secundum ASD, partial AVSD, sinus venosus defect, or unroofed coronary sinus) is reasonable in an asymptomatic patient with a net left-to-right hemodynamically significant shunt (RV enlargement and/or Qp:Qs ≥ 1.5
      For closure of an ASD in the patient with a net left-to-right hemodynamically significant shunt and RV enlargement, a Qp:Qs measurement might not be necessary in decision-making.
      ) when the PAP is < 50% of systemic pressure, and/or PVR is < 1/3 SVR.
      WeakLow
      • Shah D.
      • Azhar M.
      • Oakley C.M.
      • Cleland J.G.
      • Nihoyannopoulos P.
      Natural history of secundum atrial septal defect in adults after medical or surgical treatment: a historical prospective study.
      ,
      • Brochu M.C.
      • Baril J.F.
      • Dore A.
      • Juneau M.
      • De Guise P.
      • Mercier L.A.
      Improvement in exercise capacity in asymptomatic and mildly symptomatic adults after atrial septal defect percutaneous closure.
      ,
      • Roos-Hesselink J.W.
      • Meijboom F.J.
      • Spitaels S.E.
      • et al.
      Excellent survival and low incidence of arrhythmias, stroke and heart failure long-term after surgical ASD closure at young age. A prospective follow-up study of 21-33 years.
      ,
      • Varma C.
      • Benson L.N.
      • Silversides C.
      • et al.
      Outcomes and alternative techniques for device closure of the large secundum atrial septal defect.
      3We recommend percutaneous device closure of secundum ASD as the method of choice if expertise is available and the defect is amenable to device closure.StrongModerate
      • Villablanca P.A.
      • Shah K.
      • Briston D.A.
      • et al.
      Treatment options for the closure of secundum atrial septal defects: a systematic review and meta-analysis.
      4We recommend surgical closure of a partial AVSD, sinus venosus defect, or unroofed coronary sinus defect. We recommend that surgery be performed by a cardiac surgeon with expertise in congenital heart surgery.StrongModerate
      • Attie F.
      • Rosas M.
      • Granados N.
      • Zabal C.
      • Buendia A.
      • Calderon J.
      Surgical treatment for secundum atrial septal defects in patients > 40 years old. A randomized clinical trial.
      ,
      • Gajjar T.P.
      • Hiremath C.S.
      • Desai N.B.
      Surgical closure of sinus venosus atrial septal defect using a single patch--transcaval repair technique.
      6We suggest that closure of an ASD may be considered in the presence of elevated pulmonary pressures, when the net shunt is left-to-right and PAP is < 2/3 of systemic pressure, and/or the PVR is < 2/3 SVR. Such patients should be assessed and cared for by a multidisciplinary team with expertise in CHD and PAH.WeakModerate
      • Bradley E.A.
      • Chakinala M.
      • Billadello J.J.
      Usefulness of medical therapy for pulmonary hypertension and delayed atrial septal defect closure.
      • Cho Y.H.
      • Jun T.G.
      • Yang J.H.
      • et al.
      Surgical strategy in patients with atrial septal defect and severe pulmonary hypertension.
      • Bradley E.A.
      • Ammash N.
      • Martinez S.C.
      • et al.
      The North American Atrial Septal Defect Pulmonary Hypertension (NAAPH) study: efficacy of PAH therapy in ASD closure [abstract].
      7We do not recommend closure of an ASD in patients with PAP > 2/3 systemic, PVR > 2/3 systemic, and/or a net right-to-left shunt. Such patients should receive care from specialists with expertise in CHD and PAH.StrongLow
      • Kouchoukos N.T.
      • Blackstone E.H.
      • Kirklin J.W.
      Surgical implications of pulmonary hypertension in congenital heart disease.
      ,
      • Shohtsu A.
      • Takeuchi S.
      • Inoue T.
      Surgical indications and results for congenital cardiac anomalies associated with left to right shunt and severe pulmonary hypertension.
      8We suggest that an ASD may be considered for closure in patients who have had a stroke, TIA, or systemic embolism of unknown cause, and paradoxical embolism is suspected.WeakLow
      • Mas J.L.
      • Derumeaux G.
      • Guillon B.
      • et al.
      Patent foramen ovale closure or anticoagulation vs. antiplatelets after stroke.
      9We suggest that an ASD may be considered for closure in patients with orthodeoxia-platypnea.WeakLow
      • Shah A.H.
      • Osten M.
      • Leventhal A.
      • et al.
      Percutaneous intervention to treat platypnea-orthodeoxia syndrome: the Toronto experience.
      ,
      • Landzberg M.J.
      • Sloss L.J.
      • Faherty C.E.
      • et al.
      Orthodeoxia-platypnea due to intracardiac shunting--relief with transcatheter double umbrella closure.
      10We suggest that closure of an ASD in patients with transvenous pacing electrodes or chronic indwelling venous catheters is reasonable to diminish the risk of paradoxical embolism.WeakLow
      • Khairy P.
      • Landzberg M.J.
      • Gatzoulis M.A.
      • et al.
      Transvenous pacing leads and systemic thromboemboli in patients with intracardiac shunts: a multicenter study.
      ASD, atrial septal defect; AVSD, atrioventricular septal defect; CHD, congenital heart disease; GRADE, Grading of Recommendations Assessment, Development and Evaluation; PAH, pulmonary arterial hypertension; PAP, pulmonary artery pressure; PVR, pulmonary vascular resistance; Qp, pulmonary flow; Qs, systemic flow; RV, right ventricular; SVR, systemic vascular resistance; TIA, transient ischemic attack.
      For closure of an ASD in the patient with a net left-to-right hemodynamically significant shunt and RV enlargement, a Qp:Qs measurement might not be necessary in decision-making.
      Figure thumbnail gr2
      Figure 2(A) ASD intervention pathway. (B) ASD intervention pathway (continued). ACHD, adults with congenital heart disease; ASD, atrial septal defect; PAH, pulmonary arterial hypertension; PAP, pulmonary artery pressure; PH, pulmonary hypertension; PVR, pulmonary vascular resistance; RV, right ventricular; Qp, pulmonary flow; Qs, systemic flow.

      Ventricular Septal Defect

      Background

      Ventricular septal defect (VSD) is one of the most commonly encountered congenital heart defects. There are 4 types of VSD: muscular, perimembranous, supracristal (outlet or conal [if located above the crista supraventricularis]) and AVSD (or inlet-type VSD) spectrum.
      • Perloff J.K.
      • Marelli A.
      Chapter 17: ventricular septal defect.
      The type of VSD is important because there are differences in the natural history and indications for closure. Patients with an isolated VSD that is surgically repaired in childhood and those with small restrictive (without significant shunt) VSDs not requiring repair, have an excellent long-term prognosis, although they are not completely free from morbidity or mortality (Fig. 3).
      Figure thumbnail gr3
      Figure 3Various types of ventricular septal defects (VSDs). Anatomic location of VSDs, viewed from the right ventricle. 1, Outlet VSD; 2, perimembranous VSD; 3, inlet VSD; 4, muscular central VSD; 5, muscular apical VSD; and 6, muscular marginal VSD. AO, aorta; ICV, inferior caval vein; PA, pulmonary artery; SCV, Superior caval vein.
      Reproduced from Popelová et al.
      • Popelová J.
      • Oechslin E.
      • Kaemmerer H.
      • St John Sutton M.G.
      • Žáček P.
      Congenital Heart Disease in Adults.
      with permission of the Licensor through PLSclear. © 2008 Informa UK Ltd.

      Clinical presentation

      Of patients with restrictive VSD deemed not to require surgical closure during childhood, long-term survival is expected and favourable.
      • Perloff J.K.
      • Marelli A.
      Chapter 17: ventricular septal defect.
      • Soufflet V.
      • Van de Bruaene A.
      • Troost E.
      • et al.
      Behavior of unrepaired perimembranous ventricular septal defect in young adults.
      • Gabriel H.M.
      • Heger M.
      • Innerhofer P.
      • et al.
      Long-term outcome of patients with ventricular septal defect considered not to require surgical closure during childhood.
      Occasionally, isolated VSDs are not identified in childhood and might subsequently present in adulthood with left ventricular (LV) volume overload, infective endocarditis, progressive aortic regurgitation (AR), or PAH.

      Recommendations for intervention

      Conservative management is typical for patients with a small restrictive VSD.
      • Miyake T.
      • Shinohara T.
      • Fukuda T.
      • Ikeoka M.
      • Takemura T.
      Spontaneous closure of perimembranous ventricular septal defect after school age.
      Indications for closure derive from the presence of symptoms and/or evidence of a hemodynamically significant shunt in the absence of irreversible pulmonary vascular disease. A VSD is considered hemodynamically significant if there is evidence of LV volume overload and/or if there is a Qp:Qs ≥ 1.5 with no significant PAH.
      There is significant morbidity and mortality if surgical closure of a VSD is attempted in patients with pulmonary vascular disease.
      • Kouchoukos N.T.
      • Blackstone E.H.
      • Kirklin J.W.
      Surgical implications of pulmonary hypertension in congenital heart disease.
      If the pulmonary artery (PA) systolic pressure is > 2/3 systemic, pulmonary vascular resistance (PVR) is > 2/3 systemic vascular resistance, and/or there is net right-to-left shunting across the VSD (Eisenmenger physiology), the surgical risk is prohibitive.
      • Shohtsu A.
      • Takeuchi S.
      • Inoue T.
      Surgical indications and results for congenital cardiac anomalies associated with left to right shunt and severe pulmonary hypertension.
      ,
      • Cartmill T.B.
      • DuShane J.W.
      • McGoon D.C.
      • Kirklin J.W.
      Results of repair of ventricular septal defect.
      Even more contemporary attempts to intervene in this patient population continue to show a significantly high rate of morbidity and mortality.
      • Hu Z.
      • Xie B.
      • Zhai X.
      • et al.
      Midterm results of “treat and repair” for adults with non-restrictive ventricular septal defect and severe pulmonary hypertension.
      Therefore, closure of a VSD in patients with important and irreversible pulmonary vascular disease remains contraindicated. Patients in this category should undergo vasoreactivity testing (pure oxygen, inhaled nitric oxide, or inhaled prostanoids) because there is evidence that those who can achieve PVR < 5 Wood units and a Qp:Qs ≥ 1.5 might still be candidates for closure after multidisciplinary consultation with a PAH specialist.
      • D’Alto M.
      • Romeo E.
      • Argiento P.
      • et al.
      Hemodynamics of patients developing pulmonary arterial hypertension after shunt closure.
      The risk of infective endocarditis is higher in patients with an open VSD than after surgical closure.
      • Lee P.T.
      • Uy F.M.
      • Foo J.S.
      • Tan J.L.
      Increased incidence of infective endocarditis in patients with ventricular septal defect.
      Although a reduction in the risk of endocarditis is not by itself sufficient to justify closure of a small defect, after infective endocarditis, closure of the defect might be warranted to prevent recurrence.
      • Li W.
      • Somerville J.
      Infective endocarditis in the grown-up congenital heart (GUCH) population.
      Similarly, patients with transvenous pacemaker leads and an open intracardiac shunt have a twofold increase in the risk of systemic thromboemboli compared with those without transvenous leads in place. Thus, closure of VSDs might be considered before implantation of transvenous pacing systems.
      • Khairy P.
      • Landzberg M.J.
      • Gatzoulis M.A.
      • et al.
      Transvenous pacing leads and systemic thromboemboli in patients with intracardiac shunts: a multicenter study.
      VSD closure might be indicated to prevent progressive AR, especially in patients with supracristal VSDs, in whom there is an increased risk of developing AR secondary to aortic valve prolapse.
      • Kirklin J.W.
      • Dushane J.W.
      Indications for repair of ventricular septal defects.
      ,
      • Rhodes L.A.
      • Keane J.F.
      • Keane J.P.
      • et al.
      Long follow-up (to 43 years) of ventricular septal defect with audible aortic regurgitation.
      In a subset of patient with supracristal VSDs who do not have progressive AR, cautious surveillance might be reasonable.
      • Egbe A.C.
      • Poterucha J.T.
      • Dearani J.A.
      • Warnes C.A.
      Supracristal ventricular septal defect in adults: is it time for a paradigm shift?.
      Surgical closure of a VSD has been the gold standard of management, with low operative mortality.
      • Jacobs J.P.
      • Mayer Jr., J.E.
      • Pasquali S.K.
      • et al.
      The Society of Thoracic Surgeons Congenital Heart Surgery Database: 2018 update on outcomes and quality.
      An increasing number of techniques, ranging from fully percutaneous procedures to minimally invasive and hybrid techniques are now available. Some are in widespread use because of favourable safety profiles and patient preference.
      • Yi K.
      • You T.
      • Ding Z.H.
      • et al.
      Comparison of transcatheter closure, mini-invasive closure, and open-heart surgical repair for treatment of perimembranous ventricular septal defects in children: a PRISMA-compliant network meta-analysis of randomized and observational studies.
      ,
      • Santhanam H.
      • Yang L.
      • Chen Z.
      • Tai B.C.
      • Rajgor D.D.
      • Quek S.C.
      A meta-analysis of transcatheter device closure of perimembranous ventricular septal defect.
      Percutaneous options were initially thought to be prudent only for the management of muscular VSDs, because of the reported high incidence of complete heart block and valvular complications after percutaneous closure of perimembranous and supracristal (outlet) VSDs.
      • Butera G.
      • Carminati M.
      • Chessa M.
      • et al.
      Transcatheter closure of perimembranous ventricular septal defects: early and long-term results.
      More recent studies suggest that these risks were likely overestimated and that device closure is safe and effective for most VSDs.
      • Khairy P.
      • Ionescu-Ittu R.
      • Mackie A.S.
      • Abrahamowicz M.
      • Pilote L.
      • Marelli A.J.
      Changing mortality in congenital heart disease.
      ,
      • Chen Q.
      • Hong Z.N.
      • Zhang G.C.
      • et al.
      Intraoperative device closure of isolated ventricular septal defects: experience on 1,090 cases.
      The decision regarding method of VSD closure should be on the basis of local expertise, patient preference, and other anatomic considerations including aortic valve prolapse. VSD closure should be performed in a high-volume centre by interventionalists and/or surgeons trained in CHD
      • Jenkins K.J.
      • Newburger J.W.
      • Lock J.E.
      • Davis R.B.
      • Coffman G.A.
      • Iezzoni L.I.
      In-hospital mortality for surgical repair of congenital heart defects: preliminary observations of variation by hospital caseload.
      (Table 2, Fig. 4).
      Table 2Recommendations for intervention in adults with VSDs
      RecommendationsGRADEReferences
      StrengthQuality
      1We recommend closure of a hemodynamically significant VSD (evidence of LV volume overload and/or Qp:Qs ≥ 1.5) with no significant PAH (PAP < 50% systemic and/or PVR < 1/3 SVR).StrongModerate
      • Shohtsu A.
      • Takeuchi S.
      • Inoue T.
      Surgical indications and results for congenital cardiac anomalies associated with left to right shunt and severe pulmonary hypertension.
      ,
      • Jacobs J.P.
      • Mayer Jr., J.E.
      • Pasquali S.K.
      • et al.
      The Society of Thoracic Surgeons Congenital Heart Surgery Database: 2018 update on outcomes and quality.
      ,
      • Meijboom F.
      • Szatmari A.
      • Utens E.
      • et al.
      Long-term follow-up after surgical closure of ventricular septal defect in infancy and childhood.
      2We suggest that closure of a hemodynamically significant VSD may be considered in the setting of moderate PAH (PAP ≥ 50% systemic and/or PVR > 1/3 SVR but Qp:Qs ≥ 1.5 at baseline or in response to vasodilator challenge). Such patients should be assessed and cared for by a multidisciplinary team with expertise in CHD and PAH.WeakLow
      • D’Alto M.
      • Romeo E.
      • Argiento P.
      • et al.
      Hemodynamics of patients developing pulmonary arterial hypertension after shunt closure.
      3We do not recommend closure of a hemodynamically significant VSD in the setting of significant PAH (PAP > 2/3 of systolic blood pressure, PVR > 2/3 SVR, net right-to-left shunt). Such patients should receive care from specialists with expertise in CHD and PAH.StrongLow
      • Kouchoukos N.T.
      • Blackstone E.H.
      • Kirklin J.W.
      Surgical implications of pulmonary hypertension in congenital heart disease.
      ,
      • Shohtsu A.
      • Takeuchi S.
      • Inoue T.
      Surgical indications and results for congenital cardiac anomalies associated with left to right shunt and severe pulmonary hypertension.
      ,
      • Cartmill T.B.
      • DuShane J.W.
      • McGoon D.C.
      • Kirklin J.W.
      Results of repair of ventricular septal defect.
      4We suggest that closure of a hemodynamically insignificant VSD with no evidence of PAH is reasonable after repeated episodes of infective endocarditis.WeakLow
      • Lee P.T.
      • Uy F.M.
      • Foo J.S.
      • Tan J.L.
      Increased incidence of infective endocarditis in patients with ventricular septal defect.
      ,
      • Li W.
      • Somerville J.
      Infective endocarditis in the grown-up congenital heart (GUCH) population.
      5We suggest closure of a hemodynamically insignificant VSD with no evidence of PAH is reasonable if there is a requirement for transvenous pacing or chronic indwelling venous catheter(s).WeakLow
      • Khairy P.
      • Landzberg M.J.
      • Gatzoulis M.A.
      • et al.
      Transvenous pacing leads and systemic thromboemboli in patients with intracardiac shunts: a multicenter study.
      6We suggest that closure of a hemodynamically insignificant perimembranous or supracristal VSD is reasonable in the setting of progressive aortic regurgitation secondary to aortic cusp prolapse and in the absence of PAH.WeakLow
      • Kirklin J.W.
      • Dushane J.W.
      Indications for repair of ventricular septal defects.
      ,
      • Rhodes L.A.
      • Keane J.F.
      • Keane J.P.
      • et al.
      Long follow-up (to 43 years) of ventricular septal defect with audible aortic regurgitation.
      ,
      • Meijboom F.
      • Szatmari A.
      • Utens E.
      • et al.
      Long-term follow-up after surgical closure of ventricular septal defect in infancy and childhood.
      7We recommend that the method of VSD closure should be determined by local expertise and performed in a high-volume centre by interventionalists and/or surgeons trained in CHD. Although surgical closure of VSD remains the gold standard, percutaneous closure may be an alternative in select cases.StrongModerate
      • Santhanam H.
      • Yang L.
      • Chen Z.
      • Tai B.C.
      • Rajgor D.D.
      • Quek S.C.
      A meta-analysis of transcatheter device closure of perimembranous ventricular septal defect.
      • Butera G.
      • Carminati M.
      • Chessa M.
      • et al.
      Transcatheter closure of perimembranous ventricular septal defects: early and long-term results.
      • Chen Q.
      • Hong Z.N.
      • Zhang G.C.
      • et al.
      Intraoperative device closure of isolated ventricular septal defects: experience on 1,090 cases.
      • Jenkins K.J.
      • Newburger J.W.
      • Lock J.E.
      • Davis R.B.
      • Coffman G.A.
      • Iezzoni L.I.
      In-hospital mortality for surgical repair of congenital heart defects: preliminary observations of variation by hospital caseload.
      CHD, congenital heart disease; GRADE, Grading of Recommendations Assessment, Development and Evaluation; LV, left ventricular; PAH, pulmonary arterial hypertension; PAP, pulmonary artery pressure; PVR, pulmonary vascular resistance; Qp, pulmonary flow; Qs, systemic flow; SVR, systemic vascular resistance; VSD, ventricular septal defect.
      Figure thumbnail gr4
      Figure 4Ventricular septal defect (VSD) intervention pathway. ACHD, adults with congenital heart disease; L, left; LV, left ventricle; PAP, pulmonary artery pressure; PASP, pulmonary arterial systolic pressure; PH, pulmonary hypertension; PVR, pulmonary vascular resistance; Qp, pulmonary flow; Qs, systemic flow; R, right; SBP, systolic blood pressure; SVR, systemic vascular resistance.

      Patent Ductus Arteriosus

      Background

      Patent ductus arteriosus (PDA) represents a spectrum of severity from a small, nonsignificant ductus to a large shunt lesion.
      • Perloff J.K.
      • Marelli A.
      Chapter 20: patent ductus arteriosus aortopulmonary window.
      In the average full-term neonate, the ductus arteriosus closes soon after birth. The incidence of a persistent PDA is approximately 1 per thousand. Although surgical closure has been performed since 1939, percutaneous techniques have proven effective in large case series. More recently, patient preference and cost-effectiveness have led to percutaneous device closure performed by congenital interventionalists becoming the preferred method of closure (Fig. 5).
      Figure thumbnail gr5
      Figure 5Patent ductus arteriosus (PDA). AO, aorta; BT, brachicephalic trunk; LCA, left carotid artery; LPA, left branch of pulmonary artery; LSA, left subclavian artery; PA, pulmonary artery.
      Reproduced from Popelová et al.
      • Popelová J.
      • Oechslin E.
      • Kaemmerer H.
      • St John Sutton M.G.
      • Žáček P.
      Congenital Heart Disease in Adults.
      with permission of the Licensor through PLSclear. © 2008 Informa UK Ltd.

      Clinical presentation

      A large patent ductus, if left untreated, can result in LV volume overload, PAH eventually leading to right-to-left shunting, and reduction in life expectancy.
      • Perloff J.K.
      • Marelli A.
      Chapter 20: patent ductus arteriosus aortopulmonary window.

      Recommendations for intervention

      The decision to close a PDA or monitor expectantly depends on its hemodynamic significance. A hemodynamically significant PDA results in LV volume overload and closure has been shown to decrease LV end-diastolic volume.
      • Jeong Y.H.
      • Yun T.J.
      • Song J.M.
      • et al.
      Left ventricular remodeling and change of systolic function after closure of patent ductus arteriosus in adults: device and surgical closure.
      Similar to other shunt lesions, the presence of significant PAH (systolic pulmonary artery pressure [PAP] > 2/3 systemic pressure and/or PVR > 2/3 systemic vascular resistance) is a contraindication to closure.
      • Kouchoukos N.T.
      • Blackstone E.H.
      • Kirklin J.W.
      Surgical implications of pulmonary hypertension in congenital heart disease.
      Closure may be considered in those with moderate PAH with evidence of reversibility.
      • Yan C.
      • Zhao S.
      • Jiang S.
      • et al.
      Transcatheter closure of patent ductus arteriosus with severe pulmonary arterial hypertension in adults.
      In the presence of a history of endarteritis, closure may be considered to prevent recurrent endarteritis
      • Schrader R.
      • Kadel C.
      Persistent ductus arteriosus--is closure indicated also in asymptomatic adults with small ductus and minor shunt? [in German].
      (Table 3, Fig. 6).
      Table 3Recommendations for intervention in adults with PDA
      RecommendationsGRADEReferences
      StrengthQuality
      1We recommend closure of a PDA if LV enlargement is present and attributable to the PDA with net left-to-right shunt, PAP < 50% systemic and PVR < 1/3 systemic.StrongLow
      • Jeong Y.H.
      • Yun T.J.
      • Song J.M.
      • et al.
      Left ventricular remodeling and change of systolic function after closure of patent ductus arteriosus in adults: device and surgical closure.
      ,
      • John S.
      • Muralidharan S.
      • Jairaj P.S.
      • et al.
      The adult ductus: review of surgical experience with 131 patients.
      2We suggest that PDA closure may be considered in the presence of a net left-to-right shunt even if PAP is ≥ 50% systemic, and/or PVR is 1/3-2/3 systemic.WeakModerate
      • Yan C.
      • Zhao S.
      • Jiang S.
      • et al.
      Transcatheter closure of patent ductus arteriosus with severe pulmonary arterial hypertension in adults.
      3We do not recommend PDA closure in patients with a net right-to-left shunt or PAP > 2/3 systemic or PVR > 2/3 systemic. Such patients should receive care from specialists with expertise in CHD and PAH.StrongLow
      • Kouchoukos N.T.
      • Blackstone E.H.
      • Kirklin J.W.
      Surgical implications of pulmonary hypertension in congenital heart disease.
      4We suggest that closure of a small PDA is reasonable after an episode of endarteritis.WeakLow
      • Schrader R.
      • Kadel C.
      Persistent ductus arteriosus--is closure indicated also in asymptomatic adults with small ductus and minor shunt? [in German].
      6We recommend device closure as the preferred method for treatment of an isolated PDA.StrongModerate
      • Sudhakar P.
      • Jose J.
      • George O.K.
      Contemporary outcomes of percutaneous closure of patent ductus arteriosus in adolescents and adults.
      • Jin M.
      • Liang Y.M.
      • Wang X.F.
      • et al.
      A retrospective study of 1,526 cases of transcatheter occlusion of patent ductus arteriosus.
      • Fedderly R.T.
      • Beekman 3rd, R.H.
      • Mosca R.S.
      • Bove E.L.
      • Lloyd T.R.
      Comparison of hospital charges for closure of patent ductus arteriosus by surgery and by transcatheter coil occlusion.
      CHD, congenital heart disease; GRADE, Grading of Recommendations Assessment, Development and Evaluation; LV, left ventricular; PAH, pulmonary arterial hypertension; PAP, pulmonary artery pressure; PVR, pulmonary vascular resistance; PDA, patent ductus arteriosus.
      Figure thumbnail gr6
      Figure 6Patent ductus arteriosus (PDA) intervention pathway. ACHD, adults with congenital heart disease; CT, computed tomography; L, left; LV, left ventricle; MRI, magnetic resonance imaging; PAP, pulmonary artery pressure; PH, pulmonary hypertension; PVR, pulmonary vascular resistance; Qp, pulmonary flow; Qs, systemic flow; R, right; SBP, systolic blood pressure; SVR, systemic vascular resistance.

      Atrioventricular Septal Defect

      Background

      The term, AVSD, embraces the obsolete terms, AV canal defect and endocardial cushion defect that are sometimes used interchangeably to describe the spectrum of anomalies caused by abnormal development of the endocardial cushions. The defect might be limited to the atrial level (ostium primum ASD) or might include an inlet-type VSD. The AV valves are characteristically abnormal, derived by varying degrees of development and fusion of the right anterosuperior, right inferior, superior bridging, inferior bridging, and left mural leaflets.
      • Perloff J.K.
      • Marelli A.
      Chapter 15: atrial septal defect: simple and complex.
      This might result in separate right and left AV valves with a “cleft” at the junction of superior and inferior zone of apposition, or a common valve. Collectively, the various forms of AVSD occur with a prevalence of 0.21/1000 adults, which is approximately one-quarter of the prevalence of the more commonly seen ASD and VSD lesions. An AVSD might coexist with other cardiac and noncardiac lesions. It can be encountered in patients with chromosomal abnormalities and various genetic syndromes, the most common association being with trisomy 21 (Down syndrome). Anatomic variants include: partial AVSD: primum ASD, intact ventricular septum, cleft left AV valve, 2 separate AV valve annuli; intermediate AVSD: primum ASD, restrictive VSD, cleft left AV valve, fused anterior and posterior bridging leaflets resulting in distinct left and right AV valve components; and complete AVSD: nonrestrictive inlet-type VSD, common AV orifice, usually with primum ASD, though, rarely, the atrial septum is intact.

      Clinical presentation

      Clinical presentation of a partial AVSD depends not only on the size of the atrial shunt but also, and most commonly, on the degree of associated mitral regurgitation when present. Most adults with a complete AVSD will have undergone surgical repair in childhood, although some might have had palliation with PA banding. Adults with complete AVSD not repaired in infancy will have developed pulmonary vascular obstructive disease with Eisenmenger physiology. Adults with partial or intermediate AVSD might occasionally present with unrepaired defects. Symptoms can reflect HF, pulmonary vascular disease, and/or arrhythmias.
      • Perloff J.K.
      • Marelli A.
      Chapter 15: atrial septal defect: simple and complex.
      In adults who underwent surgical repair, common long-term complications include left AV valve regurgitation and, less frequently, stenosis, LV outflow tract (LVOT) obstruction, atrial arrhythmias, and AV block. Favourable results have been reported in cohorts of selected adults with primary AVSD repair
      • Bergin M.L.
      • Warnes C.A.
      • Tajik A.J.
      • Danielson G.K.
      Partial atrioventricular canal defect: long-term follow-up after initial repair in patients > or = 40 years old.
      ,
      • Gatzoulis M.A.
      • Hechter S.
      • Webb G.D.
      • Williams W.G.
      Surgery for partial atrioventricular septal defect in the adult.
      or previously operated AVSD and subsequent surgery for residual defects.
      • Gatzoulis M.A.
      • Hechter S.
      • Webb G.D.
      • Williams W.G.
      Surgery for partial atrioventricular septal defect in the adult.
      • Bando K.
      • Turrentine M.W.
      • Sun K.
      • et al.
      Surgical management of complete atrioventricular septal defects. A twenty-year experience.
      • El-Najdawi E.K.
      • Driscoll D.J.
      • Puga F.J.
      • et al.
      Operation for partial atrioventricular septal defect: a forty-year review.
      • Frontera-Izquierdo P.
      • Cabezuelo-Huerta G.
      Natural and modified history of complete atrioventricular septal defect--a 17 year study.
      • Kharbanda R.K.
      • Blom N.A.
      • Hazekamp M.G.
      • et al.
      Incidence and risk factors of post-operative arrhythmias and sudden cardiac death after atrioventricular septal defect (AVSD) correction: up to 47years of follow-up.
      • King R.M.
      • Puga F.J.
      • Danielson G.K.
      • Schaff H.V.
      • Julsrud P.R.
      • Feldt R.H.
      Prognostic factors and surgical treatment of partial atrioventricular canal.
      • Rastelli G.C.
      • Weidman W.H.
      • Kirklin J.W.
      Surgical repair of the partial form of persistent common atrioventricular canal, with special reference to the problem of mitral valve incompetence.
      • Studer M.
      • Blackstone E.H.
      • Kirklin J.W.
      • et al.
      Determinants of early and late results of repair of atrioventricular septal (canal) defects.
      • Stulak J.M.
      • Burkhart H.M.
      • Dearani J.A.
      • et al.
      Reoperations after repair of partial atrioventricular septal defect: a 45-year single-center experience.
      • Van Arsdell G.S.
      • Williams W.G.
      • Boutin C.
      • et al.
      Subaortic stenosis in the spectrum of atrioventricular septal defects. Solutions may be complex and palliative.
      Although the left AV valve in AVSD is not identical to a mitral valve, it is reasonable to extrapolate recommendations for surgical intervention related to mitral regurgitation, in the absence of evidence-based criteria more specific to AVSD.
      • Jamieson W.R.
      • Cartier P.C.
      • Allard M.
      • et al.
      Surgical management of valvular heart disease 2004.
      • Otto C.M.
      • Nishimura R.A.
      • et al.
      Writing Committee Members
      2020 ACC/AHA guideline for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
      • Otto C.M.
      • Nishimura R.A.
      • et al.
      Writing Committee Members
      2020 ACC/AHA guideline for the management of patients with valvular heart disease: executive summary: a Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
      However, anatomical differences between a left AV valve in AVSD and a mitral valve could affect the technical feasibility of valve repair. Additionally, complications of surgery, including AV block are more frequent.
      • Bianchi G.
      • Bevilacqua S.
      • Solinas M.
      • Glauber M.
      In adult patients undergoing redo surgery for left atrioventricular valve regurgitation after atrioventricular septal defect correction, is replacement superior to repair?.
      • Hoohenkerk G.J.
      • Bruggemans E.F.
      • Koolbergen D.R.
      • Rijlaarsdam M.E.
      • Hazekamp M.G.
      Long-term results of reoperation for left atrioventricular valve regurgitation after correction of atrioventricular septal defects.
      • Malhotra S.P.
      • Lacour-Gayet F.
      • Mitchell M.B.
      • Clarke D.R.
      • Dines M.L.
      • Campbell D.N.
      Reoperation for left atrioventricular valve regurgitation after atrioventricular septal defect repair.
      • Michielon G.
      • Stellin G.
      • Rizzoli G.
      • et al.
      Left atrioventricular valve incompetence after repair of common atrioventricular canal defects.
      • Rastelli G.
      • Kirklin J.W.
      • Titus J.L.
      Anatomic observations on complete form of persistent common atrioventricular canal with special reference to atrioventricular valves.
      In patients with AVSD and LVOT obstruction (LVOTO), factors associated with less favourable outcomes include a mean LVOT Doppler gradient ≥ 40 mm Hg, symptoms of HF, and accompanying moderate or severe left AV valve or AR.
      • Oliver J.M.
      • Gonzalez A.
      • Gallego P.
      • et al.
      Discrete subaortic stenosis in adults: increased prevalence and slow rate of progression of the obstruction and aortic regurgitation.
      ,
      • Trinchero R.
      • Demarie D.
      • Orzan F.
      • et al.
      Fixed subaortic stenosis. Natural history of patients with mild obstruction and follow-up of operated patients.

      Recommendations for intervention

      The recommendations summarized in Table 4 and corresponding flow diagram (Fig. 7) emphasize the prohibitive morbidity and mortality associated with shunt repair of an AVSD in patients with Eisenmenger physiology but recognize that there are some adults with an AVSD and elevated PAP who have net left-to-right shunts in whom shunt closure might prevent worsening of PAH.
      • Kouchoukos N.T.
      • Blackstone E.H.
      • Kirklin J.W.
      Surgical implications of pulmonary hypertension in congenital heart disease.
      ,
      • Shohtsu A.
      • Takeuchi S.
      • Inoue T.
      Surgical indications and results for congenital cardiac anomalies associated with left to right shunt and severe pulmonary hypertension.
      ,
      • Burke R.P.
      • Horvath K.
      • Landzberg M.
      • Hyde P.
      • Collins Jr., J.J.
      • Cohn L.H.
      Long-term follow-up after surgical repair of ostium primum atrial septal defects in adults.
      Such cases must be carefully evaluated by a multidisciplinary team including ACHD and PAH specialists. Surgical closure is recommended when anatomic considerations preclude percutaneous interventions most commonly with associated AV canal defect, sinus venosus ASD, or unroofed coronary sinus defect.
      Table 4Recommendations for intervention in adults with AVSDs
      RecommendationsGRADEReferences
      StrengthQuality
      1We recommend surgery in patients with an AVSD for primary repair or for a residual left-to-right shunt (Qp:Qs ≥ 1.5), if the PAP is < 50% systemic, and/or PVR is < 1/3 systemic.StrongLow
      • Oster M.
      • Bhatt A.B.
      • Zaragoza-Macias E.
      • Dendukuri N.
      • Marelli A.
      Interventional therapy versus medical therapy for secundum atrial septal defect: a systematic review (part 2) for the 2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Bergin M.L.
      • Warnes C.A.
      • Tajik A.J.
      • Danielson G.K.
      Partial atrioventricular canal defect: long-term follow-up after initial repair in patients > or = 40 years old.
      ,
      • Bando K.
      • Turrentine M.W.
      • Sun K.
      • et al.
      Surgical management of complete atrioventricular septal defects. A twenty-year experience.
      • El-Najdawi E.K.
      • Driscoll D.J.
      • Puga F.J.
      • et al.
      Operation for partial atrioventricular septal defect: a forty-year review.
      • Frontera-Izquierdo P.
      • Cabezuelo-Huerta G.
      Natural and modified history of complete atrioventricular septal defect--a 17 year study.
      ,
      • King R.M.
      • Puga F.J.
      • Danielson G.K.
      • Schaff H.V.
      • Julsrud P.R.
      • Feldt R.H.
      Prognostic factors and surgical treatment of partial atrioventricular canal.
      ,
      • Burke R.P.
      • Horvath K.
      • Landzberg M.
      • Hyde P.
      • Collins Jr., J.J.
      • Cohn L.H.
      Long-term follow-up after surgical repair of ostium primum atrial septal defects in adults.
      2We recommend that patients with AVSD and severe left-sided AV valve regurgitation undergo valve surgery as per valve guideline-directed recommendations for mitral valve regurgitation.StrongLow
      • Stulak J.M.
      • Burkhart H.M.
      • Dearani J.A.
      • et al.
      Reoperations after repair of partial atrioventricular septal defect: a 45-year single-center experience.
      ,
      • Jamieson W.R.
      • Cartier P.C.
      • Allard M.
      • et al.
      Surgical management of valvular heart disease 2004.
      • Otto C.M.
      • Nishimura R.A.
      • et al.
      Writing Committee Members
      2020 ACC/AHA guideline for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
      • Otto C.M.
      • Nishimura R.A.
      • et al.
      Writing Committee Members
      2020 ACC/AHA guideline for the management of patients with valvular heart disease: executive summary: a Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
      • Bianchi G.
      • Bevilacqua S.
      • Solinas M.
      • Glauber M.
      In adult patients undergoing redo surgery for left atrioventricular valve regurgitation after atrioventricular septal defect correction, is replacement superior to repair?.
      • Hoohenkerk G.J.
      • Bruggemans E.F.
      • Koolbergen D.R.
      • Rijlaarsdam M.E.
      • Hazekamp M.G.
      Long-term results of reoperation for left atrioventricular valve regurgitation after correction of atrioventricular septal defects.
      • Malhotra S.P.
      • Lacour-Gayet F.
      • Mitchell M.B.
      • Clarke D.R.
      • Dines M.L.
      • Campbell D.N.
      Reoperation for left atrioventricular valve regurgitation after atrioventricular septal defect repair.
      • Michielon G.
      • Stellin G.
      • Rizzoli G.
      • et al.
      Left atrioventricular valve incompetence after repair of common atrioventricular canal defects.
      3We suggest that in patients with AVSD and discrete LVOT obstruction surgical repair is reasonable if the mean Doppler gradient is ≥ 40 mm Hg, if the LVOT obstruction is < 40 mm Hg and there are symptoms of heart failure or if there is concomitant moderate or severe left AV valve or aortic regurgitation.WeakLow
      • Stulak J.M.
      • Burkhart H.M.
      • Dearani J.A.
      • et al.
      Reoperations after repair of partial atrioventricular septal defect: a 45-year single-center experience.
      ,
      • Van Arsdell G.S.
      • Williams W.G.
      • Boutin C.
      • et al.
      Subaortic stenosis in the spectrum of atrioventricular septal defects. Solutions may be complex and palliative.
      ,
      • Oliver J.M.
      • Gonzalez A.
      • Gallego P.
      • et al.
      Discrete subaortic stenosis in adults: increased prevalence and slow rate of progression of the obstruction and aortic regurgitation.
      ,
      • Trinchero R.
      • Demarie D.
      • Orzan F.
      • et al.
      Fixed subaortic stenosis. Natural history of patients with mild obstruction and follow-up of operated patients.
      4We suggest that surgery may be considered in patients with AVSD for primary repair or for a residual left-to-right shunt (Qp:Qs ≥ 1.5), if the PAP is ≥ 50% systemic, and/or the PVR is 1/3-2/3 systemic.WeakLow
      • Kouchoukos N.T.
      • Blackstone E.H.
      • Kirklin J.W.
      Surgical implications of pulmonary hypertension in congenital heart disease.
      ,
      • Shohtsu A.
      • Takeuchi S.
      • Inoue T.
      Surgical indications and results for congenital cardiac anomalies associated with left to right shunt and severe pulmonary hypertension.
      5We do not recommend surgical closure of an AVSD or a residual shunt if there is a net right-to-left shunt, the PAP is > 2/3 systemic, or the PVR is > 2/3 systemic.StrongModerate
      • Kouchoukos N.T.
      • Blackstone E.H.
      • Kirklin J.W.
      Surgical implications of pulmonary hypertension in congenital heart disease.
      ,
      • Shohtsu A.
      • Takeuchi S.
      • Inoue T.
      Surgical indications and results for congenital cardiac anomalies associated with left to right shunt and severe pulmonary hypertension.
      AV, atrioventricular; AVSD, atrioventricular septal defect; GRADE, Grading of Recommendations Assessment, Development and Evaluation; LVOT, left ventricular outflow tract; PAP, pulmonary artery pressure; PVR, pulmonary vascular resistance; Qp, pulmonary flow; Qs, systemic flow.
      Figure thumbnail gr7
      Figure 7Atrioventricular septal defect intervention (AVSD) pathway. AV, atrioventricular; LVOT, left ventricular outflow tract; PAP, pulmonary artery pressure; PVR, pulmonary vascular resistance; Qp, pulmonary flow; Qs, systemic flow.

      Aortopathy in Patients Wth Bicuspid Aortic Valve

      Background

      BAV is the most common congenital anomaly, occurring in 1%-2% of the general population, with male predominance.
      • Perloff J.K.
      • Marelli A.
      Chapter 7: congenital aortic stenosis: congenital aortic regurgitation.
      BAVs might become stenotic or regurgitant with time. Dilation of the aorta occurs in approximately 50% of patients with BAV. The dilation usually occurs at the level of the mid ascending aorta although the sinuses of Valsalva are sometimes involved. Flow rheology as well as genetic mutations are thought to contribute to the aortic dilation in this group of patients. BAV might also be associated with syndromes such as Turners syndrome.

      Clinical presentation

      In the patient with BAV and an aortopathy, aortic dissection can present as chest pain and can mimic a myocardial infarction.
      • Perloff J.K.
      • Marelli A.
      Chapter 7: congenital aortic stenosis: congenital aortic regurgitation.
      In approximately 10% of cases, aortic dissection is painless. Other presentations include neurologic deficits (hemiparesis, hemianaesthesia, Horner syndrome), syncope, or congestive HF in patients who develop severe AR. Measurements of the aorta are most accurate when assessed using contrast-enhanced computed tomography (CT) or cardiac magnetic resonance imaging (CMR).
      • Nejatian A.
      • Yu J.
      • Geva T.
      • White M.T.
      • Prakash A.
      Aortic measurements in patients with aortopathy are larger and more reproducible by cardiac magnetic resonance compared with echocardiography.

      Recommendations for intervention

      In patients with BAV aortopathy, medical management with β-blockers, angiotensin converting enzyme inhibitors, or statins has not been proven to be effective.
      • Allen B.D.
      • Markl M.
      • Barker A.J.
      • et al.
      Influence of beta-blocker therapy on aortic blood flow in patients with bicuspid aortic valve.
      • Ohnemus D.
      • Oster M.E.
      • Gatlin S.
      • Jokhadar M.
      • Mahle W.T.
      The effect of angiotensin-converting enzyme inhibitors on the rate of ascending aorta dilation in patients with bicuspid aortic valve.
      • Regeer M.V.
      • van Rosendael P.J.
      • Kamperidis V.
      • et al.
      Effect of statins on aortic root growth rate in patients with bicuspid aortic valve anatomy.
      The optimal timing for surgical aortic replacement is controversial. An ascending aorta measuring 50 mm at its widest diameter had previously been cited to be an indication for surgery.
      • Boodhwani M.
      • Andelfinger G.
      • Leipsic J.
      • et al.
      Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
      However, in more recent consensus statements, a maximum diameter of 55 mm has been suggested.
      2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease Representative Members, Hiratzka LF, Creager MA, et al. Surgery for aortic dilatation in patients with bicuspid aortic valves: a statement of clarification from the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Borger M.A.
      • Fedak P.W.M.
      • Stephens E.H.
      • et al.
      The American Association for Thoracic Surgery consensus guidelines on bicuspid aortic valve-related aortopathy: full online-only version.
      If high-risk features are present, such as family history of dissection or rapid annual growth (> 3-5 mm per year), then prophylactic replacement of the dilated aorta should be considered at 50 mm.
      2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease Representative Members, Hiratzka LF, Creager MA, et al. Surgery for aortic dilatation in patients with bicuspid aortic valves: a statement of clarification from the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Borger M.A.
      • Fedak P.W.M.
      • Stephens E.H.
      • et al.
      The American Association for Thoracic Surgery consensus guidelines on bicuspid aortic valve-related aortopathy: full online-only version.
      Additionally, a cross-sectional area/height ratio of ≥ 10 cm2/m, measured using CMR or CT, has been associated with adverse outcomes.
      • Wojnarski C.M.
      • Svensson L.G.
      • Roselli E.E.
      • et al.
      Aortic dissection in patients with bicuspid aortic valve-associated aneurysms.
      ,
      • Masri A.
      • Kalahasti V.
      • Svensson L.G.
      • et al.
      Aortic cross-sectional area/height ratio and outcomes in patients with bicuspid aortic valve and a dilated ascending aorta.
      In patients with Turner syndrome, prophylactic aorta replacement should be considered when the aorta measures > 2.5 cm/m2.
      • Silberbach M.
      • Roos-Hesselink J.W.
      • Andersen N.H.
      • et al.
      Cardiovascular health in Turner syndrome: a scientific statement from the American Heart Association.
      Timing of aorta replacement in such cases should follow published guidelines.
      • Boodhwani M.
      • Andelfinger G.
      • Leipsic J.
      • et al.
      Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
      Management of BAV lesions should follow published valvular and CHD guidelines.
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Baumgartner H.
      • Bonhoeffer P.
      • De Groot N.M.
      • et al.
      ESC guidelines for the management of grown-up congenital heart disease (new version 2010).
      ,
      • Otto C.M.
      • Nishimura R.A.
      • et al.
      Writing Committee Members
      2020 ACC/AHA guideline for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
      ,
      • Otto C.M.
      • Nishimura R.A.
      • et al.
      Writing Committee Members
      2020 ACC/AHA guideline for the management of patients with valvular heart disease: executive summary: a Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
      ,
      • Warnes C.A.
      • Williams R.G.
      • Bashore T.M.
      • et al.
      ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in collaboration with the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons.
      ,
      • Silversides C.K.
      • Kiess M.
      • Beauchesne L.
      • et al.
      Canadian Cardiovascular Society 2009 consensus conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome.
      In patients with severe aortic stenosis or AR needing an aortic valve replacement (AVR), this should be considered when the aorta is > 45 mm.
      • Borger M.A.
      • Preston M.
      • Ivanov J.
      • et al.
      Should the ascending aorta be replaced more frequently in patients with bicuspid aortic valve disease?.
      Aortic valve-sparing surgery can be considered in patients undergoing aorta replacement, assuming the BAV has no more than moderate AR or moderate AS
      • Kayatta M.O.
      • Leshnower B.G.
      • McPherson L.
      • Zhang C.
      • Lasanajak Y.
      • Chen E.P.
      Valve sparing root replacement provides similar midterm outcomes in bicuspid and trileaflet valves.
      (Table 5, Fig. 8).
      Table 5Recommendations for intervention in adults with bicuspid valve aortopathy
      RecommendationsGRADEReferences
      StrengthQuality
      1We recommend that patients with BAV and stenotic or regurgitant valve lesions should have valve repair or replacement according to published valve guidelines.StrongModerate
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Baumgartner H.
      • Bonhoeffer P.
      • De Groot N.M.
      • et al.
      ESC guidelines for the management of grown-up congenital heart disease (new version 2010).
      ,
      • Otto C.M.
      • Nishimura R.A.
      • et al.
      Writing Committee Members
      2020 ACC/AHA guideline for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
      ,
      • Otto C.M.
      • Nishimura R.A.
      • et al.
      Writing Committee Members
      2020 ACC/AHA guideline for the management of patients with valvular heart disease: executive summary: a Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
      ,
      • Warnes C.A.
      • Williams R.G.
      • Bashore T.M.
      • et al.
      ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in collaboration with the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons.
      ,
      • Silversides C.K.
      • Kiess M.
      • Beauchesne L.
      • et al.
      Canadian Cardiovascular Society 2009 consensus conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome.
      2We recommend that patients with BAV and an ascending aorta diameter ≥ 55 mm (widest diameter) undergo surgical aorta replacement.StrongModerate
      2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease Representative Members, Hiratzka LF, Creager MA, et al. Surgery for aortic dilatation in patients with bicuspid aortic valves: a statement of clarification from the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Borger M.A.
      • Fedak P.W.M.
      • Stephens E.H.
      • et al.
      The American Association for Thoracic Surgery consensus guidelines on bicuspid aortic valve-related aortopathy: full online-only version.
      3We suggest that it is reasonable that patients with BAV and an ascending aorta ≥ 50 mm (widest diameter) with high-risk features (family history of dissection, rapid progression [> 3-5 mm per year], or maximum cross-sectional area/height ratio ≥ 10 cm2/m), undergo surgical aorta replacement.WeakModerate
      • Boodhwani M.
      • Andelfinger G.
      • Leipsic J.
      • et al.
      Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
      2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease Representative Members, Hiratzka LF, Creager MA, et al. Surgery for aortic dilatation in patients with bicuspid aortic valves: a statement of clarification from the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      • Borger M.A.
      • Fedak P.W.M.
      • Stephens E.H.
      • et al.
      The American Association for Thoracic Surgery consensus guidelines on bicuspid aortic valve-related aortopathy: full online-only version.
      4We suggest that in patients with Turner syndrome, prophylactic aorta replacement is reasonable when the aorta measures > 2.5 cm/m2.WeakModerate
      • Carlson M.
      • Airhart N.
      • Lopez L.
      • Silberbach M.
      Moderate aortic enlargement and bicuspid aortic valve are associated with aortic dissection in Turner syndrome: report of the international turner syndrome aortic dissection registry.
      5We suggest that in patients with severe aortic stenosis or regurgitation needing an aortic valve replacement, prophylactic aortic replacement is reasonable when the aorta is > 45 mm.WeakModerate
      • Borger M.A.
      • Preston M.
      • Ivanov J.
      • et al.
      Should the ascending aorta be replaced more frequently in patients with bicuspid aortic valve disease?.
      BAV, bicuspid aortic valve; GRADE, Grading of Recommendations Assessment, Development and Evaluation.
      Figure thumbnail gr8
      Figure 8Bicuspid aortic valve aortopathy intervention pathway.

      Subaortic Stenosis and Supravalvular Aortic Stenosis

      Background

      Subaortic stenosis

      Subaortic stenosis (SubAS) can take different forms, including a discrete, “membrane-like” or long “tunnel-like” obstruction.
      • Perloff J.K.
      • Marelli A.
      Chapter 7: congenital aortic stenosis: congenital aortic regurgitation.
      If discrete, it is often an isolated lesion and can be treated surgically with a low recurrence rate. If “tunnel-like” it is often associated with other lesions of the left heart such as aortic coarctation, interrupted aortic arch, Shone complex (with multilevel left heart obstructive lesions),
      • Perloff J.K.
      • Marelli A.
      Chapter 7: congenital aortic stenosis: congenital aortic regurgitation.
      or in the context of an AVSD. Management of tunnel-like SubAS often requires more complex surgery such as the Konno (reconstruction of the LVOT) procedure and the recurrence rate is approximately 40%.
      • Valeske K.
      • Huber C.
      • Mueller M.
      • et al.
      The dilemma of subaortic stenosis--a single center experience of 15 years with a review of the literature.
      In both forms of SubAS, AR might develop from damage to the aortic valve resulting from turbulent flow in the LVOT.

      Supravalvular aortic stenosis

      Supravalvular aortic stenosis (SupraAS) is a rare form of LVOTO.
      • Perloff J.K.
      • Marelli A.
      Chapter 7: congenital aortic stenosis: congenital aortic regurgitation.
      It can be discrete or diffuse (hourglass deformity) and is usually located at the level of the sinotubular junction, although it might involve the coronary ostia. Its occurrence has been associated with a mutation of the elastin gene that causes obstructive arteriopathy. SupraAS is often associated with Williams syndrome and PA stenosis.

      Clinical presentation

      SubAS

      In patients with SubAS, symptoms are dependent on the severity of the obstruction and the associated valve lesions.
      • Perloff J.K.
      • Marelli A.
      Chapter 7: congenital aortic stenosis: congenital aortic regurgitation.
      The symptoms associated with SubAS are similar to those of valvar aortic stenosis, including syncope, angina, and/or HF.

      SupraAS

      Progressive SupraAS might occur in adulthood. Those with severe outflow tract obstruction might present with syncope, angina, or HF.
      • Perloff J.K.
      • Marelli A.
      Chapter 7: congenital aortic stenosis: congenital aortic regurgitation.
      SupraAS might be associated with significant ostial coronary stenosis, PA stenosis, and∕or progressive AR, and symptoms correspond to the associated lesions. Williams syndrome is a nonfamilial variant of SupraAS characterized by distinctive facies and voice, short stature, developmental delay, friendly temperament, and other vascular anomalies including renal artery stenosis.

      Recommendations for intervention

      SubAS

      In patients with SubAS, indications for surgical management depend on symptoms, degree of LVOTO, and/or the degree of AR.
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Baumgartner H.
      • Bonhoeffer P.
      • De Groot N.M.
      • et al.
      ESC guidelines for the management of grown-up congenital heart disease (new version 2010).
      ,
      • Warnes C.A.
      • Williams R.G.
      • Bashore T.M.
      • et al.
      ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in collaboration with the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons.
      ,
      • Silversides C.K.
      • Dore A.
      • Poirier N.
      • et al.
      Canadian Cardiovascular Society 2009 consensus conference on the management of adults with congenital heart disease: shunt lesions.
      Symptomatic patients with severe LVOTO (mean Doppler gradient ≥ 40 mm Hg) should undergo surgical relief of the obstruction. Symptomatic patients with moderate LVOTO should be considered for surgical relief if the symptoms are attributable to the outflow tract obstruction, or if there is severe AR or LV dysfunction.
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Baumgartner H.
      • Bonhoeffer P.
      • De Groot N.M.
      • et al.
      ESC guidelines for the management of grown-up congenital heart disease (new version 2010).
      ,
      • Warnes C.A.
      • Williams R.G.
      • Bashore T.M.
      • et al.
      ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in collaboration with the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons.
      ,
      • Silversides C.K.
      • Kiess M.
      • Beauchesne L.
      • et al.
      Canadian Cardiovascular Society 2009 consensus conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome.
      Symptomatic patients with severe LVOTO (mean Doppler gradient ≥ 40 mm Hg) and moderate or severe AR might benefit from relief of LVOTO and AVR.
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Baumgartner H.
      • Bonhoeffer P.
      • De Groot N.M.
      • et al.
      ESC guidelines for the management of grown-up congenital heart disease (new version 2010).
      ,
      • Warnes C.A.
      • Williams R.G.
      • Bashore T.M.
      • et al.
      ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in collaboration with the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons.
      ,
      • Silversides C.K.
      • Kiess M.
      • Beauchesne L.
      • et al.
      Canadian Cardiovascular Society 2009 consensus conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome.
      Surgical repair of SubAS carries a 10%-15% risk of complete heart block, and usually becomes apparent in the immediate postoperative period. Lifelong follow-up is recommended to monitor for the development of symptoms from progressive SubAS or recurrence of SubAS post resection (Table 6, Fig. 9).
      Table 6Recommendations for intervention in adults with subaortic stenosis
      RecommendationsGRADEReferences
      StrengthQuality
      1We recommend that patients with symptomatic severe LVOTO (mean Doppler gradient ≥ 40 mm Hg) should undergo surgical intervention.StrongModerate
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Baumgartner H.
      • Bonhoeffer P.
      • De Groot N.M.
      • et al.
      ESC guidelines for the management of grown-up congenital heart disease (new version 2010).
      ,
      • Warnes C.A.
      • Williams R.G.
      • Bashore T.M.
      • et al.
      ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in collaboration with the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons.
      ,
      • Silversides C.K.
      • Kiess M.
      • Beauchesne L.
      • et al.
      Canadian Cardiovascular Society 2009 consensus conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome.
      2We suggest that in symptomatic patients with moderate LVOTO (mean Doppler gradient of 20-40 mm Hg) and moderate or greater AR surgical intervention including relief of LVOTO and aortic valve intervention is reasonable.WeakLow
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Baumgartner H.
      • Bonhoeffer P.
      • De Groot N.M.
      • et al.
      ESC guidelines for the management of grown-up congenital heart disease (new version 2010).
      ,
      • Warnes C.A.
      • Williams R.G.
      • Bashore T.M.
      • et al.
      ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in collaboration with the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons.
      ,
      • Silversides C.K.
      • Kiess M.
      • Beauchesne L.
      • et al.
      Canadian Cardiovascular Society 2009 consensus conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome.
      3We suggest that in asymptomatic patients with severe LVOTO (mean Doppler gradient ≥ 40 mm Hg) and 1 or more of:

      a) Moderate or severe AR

      b) Decrease in BP in response to exercise

      c) LVH or LV dysfunction surgical intervention consisting of relief of LVOTO with or without aortic valve intervention is reasonable.
      WeakLow
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Baumgartner H.
      • Bonhoeffer P.
      • De Groot N.M.
      • et al.
      ESC guidelines for the management of grown-up congenital heart disease (new version 2010).
      ,
      • Warnes C.A.
      • Williams R.G.
      • Bashore T.M.
      • et al.
      ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in collaboration with the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons.
      ,
      • Silversides C.K.
      • Kiess M.
      • Beauchesne L.
      • et al.
      Canadian Cardiovascular Society 2009 consensus conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome.
      AR, aortic regurgitation; BP, blood pressure; GRADE, Grading of Recommendations Assessment, Development and Evaluation; LV, left ventricular; LVH, left ventricular hypertrophy; LVOTO, left ventricular outflow tract obstruction.
      Figure thumbnail gr9
      Figure 9Subaortic stenosis intervention pathway. LV, left ventricular; LVH, left ventriular hypertrophy.

      SupraAS

      Indications for intervention in patients with SupraAS depend on the symptom status of the patient, the severity of obstruction, ventricular systolic function, involvement of the coronary ostia, and aortic or pulmonic valve involvement. Symptomatic patients with a mean Doppler gradient ≥ 40 mm Hg should undergo surgical relief of the obstruction. Asymptomatic patients with a mean Doppler gradient on echocardiography ≥ 40 mm Hg might benefit from surgical relief of the obstruction, especially if the surgical risk is low. Patients with a mean Doppler gradient < 40 mm Hg and symptoms or LV dysfunction attributable to the obstruction should undergo surgery.
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Baumgartner H.
      • Bonhoeffer P.
      • De Groot N.M.
      • et al.
      ESC guidelines for the management of grown-up congenital heart disease (new version 2010).
      ,
      • Warnes C.A.
      • Williams R.G.
      • Bashore T.M.
      • et al.
      ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in collaboration with the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons.
      ,
      • Silversides C.K.
      • Kiess M.
      • Beauchesne L.
      • et al.
      Canadian Cardiovascular Society 2009 consensus conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome.
      Patients with significant concomitant coronary ostial stenosis (left main stenosis ≥ 50% or proximal right coronary stenosis ≥ 70%) should undergo coronary bypass surgery at the time of surgical relief of SupraAS. Coronary ostioplasty has also been successful and should be considered in younger adults. In patients with progressive AR, especially if more than moderate, concomitant AVR might be required at the time of surgical relief of SupraAS. At the time of surgery for SupraAS, aortic valve intervention may be considered as indicated.
      Various surgical techniques exist to repair SupraAS. A 1-patch technique (the McGoon elliptical patch or the Doty pantaloons-shaped technique) or a 3-patch technique (Brom technique) can be used. The choice depends on the underlying anatomy.
      • Fricke T.A.
      • d’Udekem Y.
      • Brizard C.P.
      • Wheaton G.
      • Weintraub R.G.
      • Konstantinov I.E.
      Surgical repair of supravalvular aortic stenosis in children with Williams syndrome: a 30-year experience.
      • Padalino M.A.
      • Frigo A.C.
      • Comisso M.
      • et al.
      Early and late outcomes after surgical repair of congenital supravalvular aortic stenosis: a European Congenital Heart Surgeons Association multicentric study.
      • Roemers R.
      • Kluin J.
      • de Heer F.
      • et al.
      Surgical correction of supravalvar aortic stenosis: 52 years’ experience.
      Percutaneous catheter-based interventions are not appropriate for the treatment of SupraAS. Reoperation for re-stenosis, AR, or PA restenosis is required in approximately 25% of patients over a 25-year follow-up.
      • Fricke T.A.
      • d’Udekem Y.
      • Brizard C.P.
      • Wheaton G.
      • Weintraub R.G.
      • Konstantinov I.E.
      Surgical repair of supravalvular aortic stenosis in children with Williams syndrome: a 30-year experience.
      • Padalino M.A.
      • Frigo A.C.
      • Comisso M.
      • et al.
      Early and late outcomes after surgical repair of congenital supravalvular aortic stenosis: a European Congenital Heart Surgeons Association multicentric study.
      • Roemers R.
      • Kluin J.
      • de Heer F.
      • et al.
      Surgical correction of supravalvar aortic stenosis: 52 years’ experience.
      These patients need lifelong surveillance (Table 7, Fig. 10).
      Table 7Recommendations for intervention in adults with SupraAS
      RecommendationsGRADEReferences
      StrengthQuality
      1We recommend that symptomatic patients with a mean Doppler gradient ≥ 40 mm Hg should undergo surgical relief of the obstruction.StrongModerate
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Baumgartner H.
      • Bonhoeffer P.
      • De Groot N.M.
      • et al.
      ESC guidelines for the management of grown-up congenital heart disease (new version 2010).
      ,
      • Warnes C.A.
      • Williams R.G.
      • Bashore T.M.
      • et al.
      ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in collaboration with the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons.
      ,
      • Silversides C.K.
      • Kiess M.
      • Beauchesne L.
      • et al.
      Canadian Cardiovascular Society 2009 consensus conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome.
      2We suggest that asymptomatic patients with a mean Doppler gradient ≥ 40 mm Hg may be considered for surgical relief of the obstruction, especially if the surgical risk is low.WeakLow
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Baumgartner H.
      • Bonhoeffer P.
      • De Groot N.M.
      • et al.
      ESC guidelines for the management of grown-up congenital heart disease (new version 2010).
      ,
      • Warnes C.A.
      • Williams R.G.
      • Bashore T.M.
      • et al.
      ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in collaboration with the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons.
      ,
      • Silversides C.K.
      • Kiess M.
      • Beauchesne L.
      • et al.
      Canadian Cardiovascular Society 2009 consensus conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome.
      3We recommend that patients with a mean Doppler gradient < 40 mm Hg and symptoms or LV dysfunction attributable to the obstruction, undergo surgical relief of the obstruction.StrongModerate
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Baumgartner H.
      • Bonhoeffer P.
      • De Groot N.M.
      • et al.
      ESC guidelines for the management of grown-up congenital heart disease (new version 2010).
      ,
      • Warnes C.A.
      • Williams R.G.
      • Bashore T.M.
      • et al.
      ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in collaboration with the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons.
      ,
      • Silversides C.K.
      • Kiess M.
      • Beauchesne L.
      • et al.
      Canadian Cardiovascular Society 2009 consensus conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome.
      4We recommend that at the time of surgical relief of SupraAS, patients with significant ostial coronary stenosis undergo surgical ostioplasty or coronary artery bypass surgery.StrongHigh
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Baumgartner H.
      • Bonhoeffer P.
      • De Groot N.M.
      • et al.
      ESC guidelines for the management of grown-up congenital heart disease (new version 2010).
      ,
      • Warnes C.A.
      • Williams R.G.
      • Bashore T.M.
      • et al.
      ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in collaboration with the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons.
      ,
      • Silversides C.K.
      • Kiess M.
      • Beauchesne L.
      • et al.
      Canadian Cardiovascular Society 2009 consensus conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome.
      GRADE, Grading of Recommendations Assessment, Development and Evaluation; LV, left ventricular; SupraAS, supravalvular aortic stenosis.
      Figure thumbnail gr10
      Figure 10Supravalvular aortic stenosis intervention pathway. AR, aortic regurgitation.

      Coarctation of the Aorta

      Background

      Coarctation of the aorta (CoA) is defined as a narrowing of the aorta usually at the level of the ductus arteriosus.
      • Perloff J.K.
      • Marelli A.
      Chapter 8: coarctation of the aorta and interrupted aortic arch.
      It can be discrete just distal to the left subclavian artery or more diffuse encompassing the aortic arch and isthmus. CoA can be associated with BAV, Shone complex (multiple levels of left-sided obstruction such as BAV, SubAS, mitral valve stenosis due to parachute mitral valve, and supravalve mitral stenosis), VSD, PDA, and intracranial aneurysm (Fig. 11).
      Figure thumbnail gr11
      Figure 11Coarctation of the aorta (CoA). AO, aorta; LCA, left carotid artery; LSA, left subclavian artery; PA, pulmonary artery.
      Reproduced from Popelová et al.
      • Popelová J.
      • Oechslin E.
      • Kaemmerer H.
      • St John Sutton M.G.
      • Žáček P.
      Congenital Heart Disease in Adults.
      with permission of the Licensor through PLSclear. © 2008 Informa UK Ltd.

      Clinical presentation

      The spectrum of clinical presentation is variable.
      • Perloff J.K.
      • Marelli A.
      Chapter 8: coarctation of the aorta and interrupted aortic arch.
      At one extreme is severe coarctation characterized by marked anatomical narrowing, presence of collateral arteries, high gradient, and upper body hypertension; at the other extreme is mild coarctation, characterized by mild aortic hypoplasia, absence of collaterals, little or no gradient, and no hypertension. In a patient with hemodynamically significant CoA, presentation in adolescence or adulthood might be with upper body hypertension, differential systolic arm-leg blood pressure (highest arm blood pressure exceeds leg blood pressure by ≥ 20 mm Hg), faint femoral pulses, murmur, leg fatigue on exertion, dyspnea, or angina. Rarely, patients present with intracerebral hemorrhage.
      In the absence of extensive collateral circulation, a significant CoA can be defined as the presence of upper limb hypertension with an associated significant gradient at catheterization (simultaneous peak to peak gradient ≥ 20 mm Hg). Catheterization hemodynamics might be inaccurate if performed with a patient under sedation or taking multiple antihypertensive medications. A significant CoA can also be defined on CMR as > 50% lumen narrowing of the CoA segment compared with the aortic diameter at the diaphragm.
      • Teien D.E.
      • Wendel H.
      • Bjornebrink J.
      • Ekelund L.
      Evaluation of anatomical obstruction by Doppler echocardiography and magnetic resonance imaging in patients with coarctation of the aorta.
      Although echocardiographic Doppler assessment of coarctation is often used as a screening tool, it is subject to error and significant CoA must be established using catheterization and/or alternative cardiac imaging such as CMR.
      If significant CoA is left untreated, patients might die prematurely from HF, aortic rupture/dissection, endocarditis, cerebral hemorrhage, coronary artery disease, or concomitant aortic valve failure (in the context of BAV).
      Long-term complications after interventions might include systemic hypertension or premature coronary artery disease despite adequate relief of the obstruction. Re-CoA occurs in 10%-20% of patients. Possible additional long-term complications include true aneurysm formation at the site of the intervention (especially after patch repair or subclavian flap technique). Regular follow-up with CMR (possibly every 5 years) should be considered for these patients. Aneurysm or pseudoaneurysm can develop at the site of previous surgical repair or transcatheter intervention.

      Recommendations for intervention

      A patient with CoA should have an intervention if there is concomitant systemic hypertension attributable to the CoA at rest or with exercise. In patients with CoA and significant LV dysfunction or collaterals, the peak to peak gradient at catheterization might underestimate the severity of CoA and one should place more weight on CMR imaging. In normotensive patients with a significant CoA confirmed using cardiac catheterization, intervention may be considered when technically feasible.
      When an intervention is considered, detailed imaging of the coarctation site using CT or CMR is recommended. For a discrete CoA, a transcatheter stent is usually performed.
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Baumgartner H.
      • Bonhoeffer P.
      • De Groot N.M.
      • et al.
      ESC guidelines for the management of grown-up congenital heart disease (new version 2010).
      ,
      • Warnes C.A.
      • Williams R.G.
      • Bashore T.M.
      • et al.
      ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in collaboration with the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons.
      ,
      • Silversides C.K.
      • Kiess M.
      • Beauchesne L.
      • et al.
      Canadian Cardiovascular Society 2009 consensus conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome.
      ,
      • Dijkema E.J.
      • Leiner T.
      • Grotenhuis H.B.
      Diagnosis, imaging and clinical management of aortic coarctation.
      ,
      • Torok R.D.
      • Campbell M.J.
      • Fleming G.A.
      • Hill K.D.
      Coarctation of the aorta: management from infancy to adulthood.
      Balloon dilation solely without a stent is not preferred because of its potential for intimal tear and long-term risks of aneurysm formation. The type of stent used will depend on the operator’s preference and technical specifications.
      • Firoozi A.
      • Mohebbi B.
      • Noohi F.
      • et al.
      Self-expanding versus balloon-expandable stents in patients with isthmic coarctation of the aorta.
      If the CoA site is long and tubular or if there is concomitant diffuse arch hypoplasia, a surgical approach is usually favoured because of concerns about perfusion and injury to spinal arteries. Surgical repair can be done by end-to-end anastomosis (most frequent), graft interposition, Dacron patch repair, subclavian flap repair or, rarely, ascending aorta to descending aorta bypass with a conduit. The type of surgery needs to be tailored to the patient’s underlying anatomy.
      • Nakamura E.
      • Nakamura K.
      • Furukawa K.
      • Ishii H.
      • Kawagoe K.
      Selection of a surgical treatment approach for aortic coarctation in adolescents and adults.
      When the patient needs a concomitant AVR, a staged procedure can be performed,
      • Nakamura E.
      • Nakamura K.
      • Furukawa K.
      • Ishii H.
      • Kawagoe K.
      Selection of a surgical treatment approach for aortic coarctation in adolescents and adults.
      namely a stent to address the coarctation if the anatomy is suitable followed by a surgical AVR at a later date. In the context of diffuse hypoplasia of the aortic arch and coarctation, a combined surgical approach for the coarctation and the AVR is preferred.
      Guidelines for intervention for recurrent coarctation are the same as for native coarctation. Pseudoaneurysm formation might require surgical or transcatheter intervention with a covered stent. A patient with an aneurysm at the site of a coarctation repair requires multidisciplinary review by an ACHD specialist and congenital heart surgeon, and, if an immediate intervention is not provided, careful ongoing ACHD follow-up (Table 8, Fig. 12).
      Table 8Recommendations for intervention in adults with coarctation of the aorta
      RecommendationsGRADEReferences
      StrengthQuality
      1We recommend that patients with significant native or recurrent coarctation of the aorta (simultaneous peak to peak gradient at catheterization ≥ 20 mm Hg
      Some patients with significant left ventricular dysfunction or with collaterals might not have a significant peak to peak gradient at the time of catheterization and still require intervention.
      or > 50% narrowing of the aorta compared with the diaphragmatic aorta on magnetic resonance images) should have an intervention if there is concomitant systemic hypertension.
      StrongModerate
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Baumgartner H.
      • Bonhoeffer P.
      • De Groot N.M.
      • et al.
      ESC guidelines for the management of grown-up congenital heart disease (new version 2010).
      ,
      • Warnes C.A.
      • Williams R.G.
      • Bashore T.M.
      • et al.
      ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in collaboration with the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons.
      ,
      • Silversides C.K.
      • Kiess M.
      • Beauchesne L.
      • et al.
      Canadian Cardiovascular Society 2009 consensus conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome.
      ,
      • Dijkema E.J.
      • Leiner T.
      • Grotenhuis H.B.
      Diagnosis, imaging and clinical management of aortic coarctation.
      ,
      • Torok R.D.
      • Campbell M.J.
      • Fleming G.A.
      • Hill K.D.
      Coarctation of the aorta: management from infancy to adulthood.
      2We recommend that if native or recurrent coarctation is significant and discrete, repair with a transcatheter stent should be performed when technically feasible.StrongModerate
      • Stout K.K.
      • Daniels C.J.
      • Aboulhosn J.A.
      • et al.
      2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
      ,
      • Baumgartner H.
      • Bonhoeffer P.
      • De Groot N.M.
      • et al.
      ESC guidelines for the management of grown-up congenital heart disease (new version 2010).
      ,
      • Warnes C.A.
      • Williams R.G.
      • Bashore T.M.
      • et al.
      ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in collaboration with the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons.
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