International team identifies the mutations that cause the most frequent congenital heart defects

Bicuspid aortic valve is the most common congenital defect in humans, affecting between 1% and 2% of the population. Instead of the usual three symmetric leaflets, affected individuals have two asymmetric valve leaflets. This defect is a frequent cause of aortic stenosis and endocarditis and is associated with early calcification of the aortic valve. Currently the only effective treatment is valve replacement surgery.