Embryonic Development of the Bicuspid Aortic Valve

Journal of Cardiovascular Development and Disease

Peter S. Martin¹  Benjamin Kloesel¹  Russell A. Norris³  Mark Lindsay²  David Milan²  Simon C. Body¹ 

[1] Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women’s Hospital, Harvard Medical School, 75 Francis St., Th724, Boston, MA 02115, USA; E-Mails:;Cardiovascular Research Center, Richard B. Simches Research Center, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA; E-Mails:;Department of Regenerative Medicine and Cell Biology, Children’s Research Institute, Medical University of South Carolina, 173 Ashley St, Charleston, SC 29403, USA; E-Mail:

关键词: bicuspid aortic valve;    heart development;    congenital heart disease;    aortic valve;    aortic stenosis;    aortic incompetence;   

DOI  :  10.3390/jcdd2040248

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2015 by the authors; licensee MDPI, Basel, Switzerland.