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Coronary artery variants and bicuspid aortic valve disease: gaining insight into genetic underpinnings
  1. Doreen DeFaria Yeh
  1. Correspondence to Dr Doreen DeFaria Yeh, Massachusetts General Hospital, Cardiology Division Adult Congenital Heart Disease Program, 55 Fruit Street, Yawkey 5700, Boston, MA 02114, USA; ddefariayeh{at}mgh.harvard.edu

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Introduction

Although bicuspid aortic valve (BAV) is the most common congenital heart disease (CHD), data are limited regarding associated coronary artery variants and how they may impact clinical outcomes, and importantly how this association may inform our understanding of the genetics of aortic root and coronary embryogenesis. An increased incidence in separate left coronary ostia, left dominant systems and high take-off coronary arteries among patients with BAV has been identified particularly among type IB BAVs (without raphe).1 However, among patients with BAV and associated CHD, pathological characteristics of coronary ostia including high take-off variants arising above the sinotubular junction have not previously been described. In this edition of Heart, Koenraddt et al report novel findings of 84 postmortem heart specimens with BAV and associated CHD and observed that high take-off coronaries were common, noted in 45% of hypoplastic left ventricle specimens and 62% of specimens with aortic hypoplasia, high take-off left coronary artery (LCA) occurred more often than high take-off right coronary artery (RCA), and high take-off RCAs were more commonly associated with type IA BAV (with raphe)2. Why these coronary patterns are seen more frequently in patients with BAV, particularly those with associated CHD, remains unclear. Refining our understanding of structural associations may provide important insights into embryological and genetic underpinnings of CHD development.

BAV disease and embryogenesis

BAV disease is common with male predominance, may be isolated or may be associated with other CHD such as coarctation of the aorta, patent ductus arteriosus, hypoplastic left heart syndrome or genetic syndromes such as Turner syndrome. Among isolated cases, valve dysfunction and aortic dilation generally predict outcomes. The semilunar valve leaflets arise from the conotruncal and intercalated cushions of the outflow tract. A BAV results from abnormal aortic cusp development during valvulogenesis, where adjacent cusps fuse or …

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