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Embryonic Development of the Bicuspid Aortic Valve

Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School, 75 Francis St., Th724, Boston, MA 02115, USA
Department of Regenerative Medicine and Cell Biology, Children's Research Institute, Medical University of South Carolina, 173 Ashley St, Charleston, SC 29403, USA
Cardiovascular Research Center, Richard B. Simches Research Center, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA
Author to whom correspondence should be addressed.
Academic Editor: Cheryl L. Maslen
J. Cardiovasc. Dev. Dis. 2015, 2(4), 248-272;
Received: 4 August 2015 / Revised: 25 September 2015 / Accepted: 1 October 2015 / Published: 2 October 2015
(This article belongs to the Special Issue Genetics and Cardiovascular Development and Disease)
PDF [3367 KB, uploaded 2 October 2015]


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. View Full-Text
Keywords: bicuspid aortic valve; heart development; congenital heart disease; aortic valve; aortic stenosis; aortic incompetence bicuspid aortic valve; heart development; congenital heart disease; aortic valve; aortic stenosis; aortic incompetence

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Martin, P.S.; Kloesel, B.; Norris, R.A.; Lindsay, M.; Milan, D.; Body, S.C. Embryonic Development of the Bicuspid Aortic Valve. J. Cardiovasc. Dev. Dis. 2015, 2, 248-272.

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J. Cardiovasc. Dev. Dis. EISSN 2308-3425 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
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