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Individuals with BAV are often asymptomatic but are at an increased risk of several life threatening events ranging from aortic stenosis and regurgitation, aneurisms, and dilation and rupture of the aorta to infective endocarditis.

So it is clear that BAV is a risk factor for many valvulo-vascular complications.

The valve leaflets originate from mesenchymal outgrowths known as the cardiac cushions.

These cardiac cushions result from the transformation of endothelial cells into mesenchymal cells through a process called EMT (epithelial to mesenchymal transformation), where endothelial cells invade the cardiac jelly separating the outer myocardium from the inner endothelium, at the base of the outflow tract (OFT).

Accepted for publication 11 November 2014 Published 23 December 2014 Volume 2015:5 Pages 11—17 DOI https://doi.org/10.2147/AGG.

S59832 Checked for plagiarism Yes Review by Single-blind Peer reviewer comments 4 Editor who approved publication: Dr John Martignetti Lara Gharibeh, Mona Nemer Molecular Genetics and Cardiac Regeneration Laboratory, Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON, Canada Abstract: Over the past years, human and molecular genetic studies have provided new understanding of valve development and the molecular pathogenesis of bicuspid aortic valve (BAV) disease.

The RN-type results from fusion of the right and noncoronary cusps and is less frequent accounting for 37% of BAV cases.

BAV follows an autosomal dominant mode of inheritance with incomplete penetrance suggestive of gene–gene and gene–environment interactions.

Leaflets orientation varies widely among BAV patients resulting in different types of BAVs classified according to the leaflets position relative to the right and left coronary arteries (Figure 1).

The mature aortic valve (Ao V) is composed of three symmetrical leaflets (also called tricuspid aortic valve [TAV]):the right and left leaflets originate from the conotruncal cushions, and the posterior aortic leaflet is formed from the right-posterior intercalated cushion, adjacent to the conotruncal cushion.

The proper formation of the heart valves ensures the unidirectional flow of blood into the systemic circulation.

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