The BRAVE Study- The Identification of Genetic Variants Associated With Bicuspid Aortic Valve Using a Combination of Case-control and Family-based Approaches.

Bicuspid aortic valve (BAV) is the most common congenital heart anomaly in the general population (1-2% of all individuals). In affected people, the aortic valve (the structure ensuring one way blood flow between the heart's left pumping chamber, the left ventricle and the main body artery, the aorta) consists of 2 rather than 3 leaflets. This arrangement can cause the affected valve to have restricted opening or cause it to leak. Both situations put strain on the heart and patients with BAV across the age range may require surgery to replace the affected valve. BAV is therefore a condition associated with significant ill health and early mortality. BAV is known to cluster in families and is likely to have a genetic cause. We don't fully understand the inheritance of BAV or the specific genes involved in its development. Learning more about this is the basis of the BRAVE study. We will