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Bicuspid aortic valve

From SNPedia

A bicuspid aortic valve (BAV) is a defect of the aortic valve of the heart that results in the formation of two leaflets or cusps instead of the normal three.Wikipedia

The bicuspid aortic valve (BAV) is the most common congenital cardiac malformation, occurring in 1-2% of the population. Individuals born with bicuspid aortic valves have several treatment options. Examples of well-known individuals born with bicuspid valves include Arnold Schwarzenegger.

Variants in the NOTCH1 gene have been associated with bicuspid aortic valve [PMID 16729972], including the following SNPs: