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. The prevalence of BAV is between 0.5–1.4% of the general population and has a male predominance of at least 2–3:1 in most series.1 There is a wide spectrum of BAVs with variability in appearance and morphology. Most often (∼75%), the right and left coronary leaflets are the larger, fused leaflet, with the leaflets oriented right and left and the true commissures oriented in an anterior and posterior manner (figure 1). Certain populations have a much higher prevalence of BAV, including those with coarctation of the aorta and Turner syndrome. Because of the high prevalence of BAV in the general population, BAV is one of the most common underlying disorders requiring aortic valve replacement. Additionally, because it is a common disorder and many patients with BAV have coexisting …