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.
1
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.
2
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.
3
The BAV phenotype can be highly variable and bicuspid aortopathy can occur with or
without abnormal aortic valve function.
4
,5
With approximately 9% of first-degree relatives of affected individuals with BAV
reported to be similarly affected,
6
and some first-degree relatives reported to have significant ascending aorta dilatation
even with a trileaflet aortic valve,
7
international guidelines now recommend family screening.
8
,
- 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.
J Am Coll Cardiol. 2010; 55: e27-e129
9
,
- 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).
Eur Heart J. 2014; 35: 2873-2926
10
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.
3
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.
11
So, how should we determine the functional significance of the various BAV phenotypes,
and timing of follow-up and interventions?- 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.
Circulation. 2015; 132: e303-e309
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Article info
Publication history
Published online: March 25, 2022
Accepted:
March 21,
2022
Received:
March 21,
2022
Footnotes
See article by Rumman et al., pages 688–694 of this issue.
See page 558 for disclosure information.
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Copyright
Crown Copyright © 2022 Published by Elsevier Inc. on behalf of the Canadian Cardiovascular Society. All rights reserved.
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- Regional Vascular Changes and Aortic Dilatation in Pediatric Patients With Bicuspid Aortic ValveCanadian Journal of CardiologyVol. 38Issue 5
- PreviewBicuspid aortic valve (BAV) is the most common congenital heart disease, often associated with valve dysfunction, coarctation of the aorta, and ascending aorta dilatation. Aortic dilatation might result from abnormal regional hemodynamics or inherent vascular disease. Vascular function in pediatric BAV remains poorly characterized.
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