Defective cilia linked to heart valve birth defects

Bicuspid aortic valve (BAV), the most common heart valve birth defect, is associated with genetic variation in human primary cilia during heart valve development, report researchers. Crucial to cilia development is the exocyst, which shuttles cilia cargo to the cell membrane. Disrupting the exocyst impaired ciliogenesis and caused a spectrum of cardiac defects in zebrafish and BAV in mice.