Abstract
Bicuspid aortic valve (BAV) is the most common congenital valvular heart defect with an overall frequency of 0.5%–1.2%. BAVs result from abnormal aortic cusp formation during valvulogenesis, whereby adjacent cusps fuse into a single large cusp resulting in two, instead of the normal three, aortic cusps. Individuals with BAV are at increased risk for ascending aortic disease, aortic stenosis and coarctation of the aorta. The frequent occurrence of BAV and its anatomically discrete but frequent co-existing diseases leads us to suspect a common cellular origin. Although autosomal-dominant transmission of BAV has been observed in a few pedigrees, notably involving the gene NOTCH1, no single-gene model clearly explains BAV inheritance, implying a complex genetic model involving interacting genes. Several sequencing studies in patients with BAV have identified rare and uncommon mutations in genes of cardiac embryogenesis. But the extensive cell-cell signaling and multiple cellular origins involved in cardiac embryogenesis preclude simplistic explanations of this disease. In this review, we examine the series of events from cellular and transcriptional embryogenesis of the heart, to development of the aortic valve.
Highlights
Congenital heart disease (CHD) is the most frequently occurring birth defect among liveborn humans
We describe normal development of the aortic valve; the key cellular players; the specifics of cell-cell communication and migration; and pathways possibly involved in Bicuspid aortic valve (BAV) development
cardiac neural crest (CNC) cells are a population of multipotent neural crest cells that originate from the dorsal neural tube at the interface of the ectoderm and neural ectoderm during embryogenesis
Summary
Congenital heart disease (CHD) is the most frequently occurring birth defect among liveborn humans. Bicuspid aortic valve (BAV) in particular is the most common congenital valvular heart defect, having an overall frequency of 0.5%–1.2% and occurring more frequently in males and white individuals. BAV occasionally demonstrates complex inheritance in large families without evidence of syndromic features, other congenital heart defects or a family history of CHD. Some 10% of BAV patients have first-degree relatives with the condition or associated non-valvular abnormalities such as aortic coarctation, thoracic aortic aneurysms, mitral valve disease or ventricular septal defects [4]. Defects remains unknown because of the complexity of transcriptional and signaling mechanisms in the developing embryo and the numerous cell types involved in tract development. We describe normal development of the aortic valve; the key cellular players; the specifics of cell-cell communication and migration; and pathways possibly involved in BAV development
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