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Bicuspid aortic valve (BAV) is one of the most common congenital heart defects leading to a significant global financial health burden as a result of its complications (1). BAV can lead to premature aortic valve disease in the form of aortic valve stenosis or regurgitation requiring multitude of interventions on aortic valve, including transcatheter interventions or surgical valve replacement. BAV disease is a continuum of disease process that not only affects the aortic valve but also extends to the thoracic aorta leading to dilatation with risk of aortic aneurysm and dissection. Even though the impacts of BAV are far and wide spread and despite decades of research and investigation, we still lack a clear understanding of the genetic and molecular pathophysiology of BAV (2).

Is there a genetic basis to the different morphological subtypes of bicuspid aortic valve?