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Canadian Journal of Cardiology

Does Routine Measurement of Aortic Stiffness in Children With Bicuspid Aortic Valve Provide an Opportunity to Better Personalize Care?

  • Timothy J. Bradley
    Correspondence
    Corresponding author: Dr Timothy J. Bradley, Room 2746, Royal University Hospital, 103 University Drive, Saskatoon, Saskatchewan S7N 0W8, Canada. Tel.: +1-306-844-1235; fax: +1-306-844-1535.
    Affiliations
    Division of Cardiology, Department of Pediatrics, Jim Pattison Children’s Hospital, and University of Saskatchewan, Saskatoon, Saskatchewan, Canada
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Published:March 25, 2022DOI:https://doi.org/10.1016/j.cjca.2022.03.014
      Congenital heart disease has previously been defined as a gross structural abnormality of the heart or intrathoracic great vessels that is actually or potentially of functional significance.
      • Mitchell S.C.
      • Korones S.B.
      • Berendes H.W.
      Congenital heart disease in 56,109 births. Incidence and natural history.
      The incidence of congenital heart disease presenting in childhood is reported to be approximately 1%, but when bicuspid aortic valve (BAV) is included it increases to be approximately 1%-2%, because many affected individuals do not present with aortic stenosis and/or insufficiency until adult life.
      • Hoffman J.
      • Kaplan S.
      The incidence of congenital heart disease.
      Dilatation of any or all segments of the proximal aorta from the aortic root to the aortic arch, called bicuspid aortopathy, is present in approximately 50% of affected individuals.
      • Verma S.
      • Siu S.C.
      Aortic dilatation in patients with bicuspid aortic valve.
      The BAV phenotype can be highly variable and bicuspid aortopathy can occur with or without abnormal aortic valve function.
      • Hahn R.T.
      • Roman M.J.
      • Mogtader A.H.
      • Devereux R.B.
      Association of aortic dilation with regurgitant, stenotic and functionally normal bicuspid aortic valves.
      ,
      • Evangelista A.
      • Gallego P.
      • Calvo-Iglesias F.
      • et al.
      Anatomical and clinical predictors of valve dysfunction and aortic dilation in bicuspid aortic valve disease.
      With approximately 9% of first-degree relatives of affected individuals with BAV reported to be similarly affected,
      • Huntington K.
      • Hunter A.G.
      • Chan K.L.
      A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve.
      and some first-degree relatives reported to have significant ascending aorta dilatation even with a trileaflet aortic valve,
      • Biner S.
      • Rafique A.M.
      • Ray I.
      • Cuk O.
      • Siegel R.J.
      • Tolstrup K.
      Aortopathy is prevalent in relatives of bicuspid aortic valve patients.
      international guidelines now recommend family screening.
      • Hiratzka L.F.
      • Bakris G.L.
      • Beckman J.A.
      • et al.
      2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease. A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine.
      • Erbel R.
      • Aboyans V.
      • Boileau C.
      • et al.
      2014 ESC guidelines on the diagnosis and treatment of aortic diseases: document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
      • Boodhwani M.
      • Andelfinger G.
      • Leipsic J.
      • et al.
      Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
      This has resulted in significantly increased numbers of children and young adults followed with minimal or no functional aortic valvular disease or aortic dilatation. Additionally, although the incidence of aortic dissection with bicuspid aortopathy was previously estimated to be as high as 5%, with serial surveillance and elective surgical intervention, it has been reported to be much lower in more contemporary studies.
      • Verma S.
      • Siu S.C.
      Aortic dilatation in patients with bicuspid aortic valve.
      Irrespective of this newer evidence, some practitioners continue to over-restrict all individuals with BAV from participating in any competitive sporting activities despite current recommendations to the contrary.
      • Braverman A.C.
      • Harris K.M.
      • Kovacs R.J.
      • et al.
      Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: Task Force 7: aortic diseases, including Marfan Syndrome: a scientific statement from the American Heart Association and American College of Cardiology.
      So, how should we determine the functional significance of the various BAV phenotypes, and timing of follow-up and interventions?
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