Aortic involvement in patients with a bicuspid aortic valve.

Bicuspid aortic valve (BAV) is one of the most common congenital heart defects. This condition is associated with significant valvular disease including aortic stenosis, aortic regurgitation, and infective endocarditis. BAV disease not only affects the aortic valve, but also the aortic root, ascending aorta, and aortic arch, all tissues originating from the neural crest. BAV may be associated with important diseases of the aorta including ascending aortic dilatation, ascending aortic aneurysm, and coarctation of the aorta. Notably, BAV is a well recognised risk factor for acute aortic dissection. It may occur sporadically or can occur as a familial trait. Additional congenital heart defects may be associated with BAV. With enhanced imaging and discoveries in molecular genetics and cellular research, the aortopathy of BAV disease is becoming much better understood. Underlying alterations in connective tissue, metalloproteinase and inhibitor activity, cell signalling, and specific gene mutations are all being evaluated in BAV aortic disease. This article discusses the key points in the pathophysiology, evaluation, and management of the aortic involvement in patients with BAV.