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Familial bicuspid aortic valve disease: should we look more closely at the valve?
  1. Romain Capoulade,
  2. Jean-Jacques Schott,
  3. Thierry Le Tourneau
  1. l’institut du thorax, INSERM, CNRS, CHU Nantes, Univ Nantes, Nantes, France
  1. Correspondence to Dr Romain Capoulade, l’institut du thorax, INSERM, CNRS, CHU Nantes, Univ Nantes, Nantes 44004, France; romain.capoulade{at}univ-nantes.fr

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Bicuspid aortic valve (BAV) is the most common congenital heart defect affecting 0.5%–2% of the adult population, with a male predominance of 3:1.1 BAV is usually characterised by the presence of two unequal-sized leaflets, the larger being the one with the raphe, which arises more frequently (approximately 70%–80%) between right and left coronary cusps.2

Several variants have been identified in sporadic BAV, such as NOTCH1 (9q34.3), FBN1 (15q21.1), NKX2-5 (5q34), MATR3 (5q31.2) and GATA5 (20q13.33), but none of them have provided consistent insight regarding causal mechanisms associated with this pathology. There is some evidence that BAV is the result of abnormal embryonic aortic cusps formation, but complete understanding of the mechanisms underlying this developmental disease remain elusive. In addition, non-valvular phenotypes are commonly documented in patients with BAV: aortic dilation or/and aneurysm are frequently associated abnormalities. This inter-relationship observed between BAV and other coexisting diseases can explain the gaps in understanding mechanisms associated with BAV formation and evolution over time.

Even if BAV is usually considered as a benign condition, an important clinical burden is associated with the disease. During adulthood, patients with BAV are more likely to develop life-threatening conditions such as infective endocarditis or severe aortic regurgitation and/or aortic stenosis, highlighting the important morbidity associated with BAV.2 This is also emphasised by the higher risk of undergoing valve surgery reported in patients with BAV as compared with patients with tricuspid aortic valve (TAV; almost 50% of patients undergoing surgery for isolated severe aortic stenosis present BAV).3 Nevertheless, even if such complications and rates of surgery could be associated with higher long-term risks for patients with BAV, no survival penalty has been reported.4 Recent approaches based on early identification of patients with BAV and familial screening, coupled with further close follow-up and ‘prophylactic’ surgery management could …

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