Genetic variants associated with BAV and related left ventricular outflow obstructions

Bicuspid aortic valve (BAV) is the most common congenital heart defect (CHD) with ~1-2% prevalence. It frequently underlies valve disease and is a major cause for cardiac surgery. Family studies genetically link BAV to rare left ventricular outflow tract obstructions (LVOTO) including hypoplastic left heart syndrome (HLHS) and coarctation of the aorta (CoA). This study links variants in PCDHA9 to development of LVOTO, consistent with murine studies. This study also confirms a previously reported finding that rare deleterious variants in MYH6 are associated with BAV, CoA, and other LVOTO.