Defective cilia linked to heart valve birth defects

Bicuspid aortic valve (BAV) is the most common heart valve birth defect and one of the most common birth defects of any type, affecting around 70 million people worldwide. A healthy aortic valve has three leaflets; in BAV disease, two of the leaflets are fused together, impairing the function of the valve. In many individuals with BAV, the valves eventually will have to be replaced or repaired through heart surgery.