Bicuspid aortic valve with aortic regurgitation

Bicuspid aortic valve (BAV) is the most common congenital cardiac abnormality, affecting approximately 1%-2% of the general population. (1,2) Adverse cardiac outcomes related to the valve and/or root (3) put a large burden on cardiovascular patients, in addition to the many undergoing aortic valve replacement who will also need aortic root surgery. 
Although inheritance is variable, it is a familial disease (4,5) with an estimated 10% chance of a first degree relative being affected (6,7) and 20%-30% when aortopathy is included into the calculation. (8,9) Additionally, certain gene mutations (NOTCH1) have been associated. 
The BAV is composed of not three aortic normal leaflets – as in the normal tricuspid valve – but two abnormal leaflets, usually unequal in size, possibly resulting from inadequate fibrillin-1 production during valvulogenesis. (10)
The most common form has the two commissures located in an anteroposterior direction giving left and right cusps. Less common is having the commissures located on the right and left sides of the annulus leading to anterior and posterior cusps. Type 1 BAVs are more likely to stenose as adults while type 2 valves will have complications earlier. Rarely, there is fusion of the left and non-coronary cusps. A raphe is present on the right and anterior cusps, respectively, and this can make the valve appear tricuspid on echocardiography