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Causes and clinical course of bicuspid aortic valve

CLASSIFICATION

Left ventricular outflow tract (LVOT) obstructive lesions account for approximately 6 percent of cases of congenital heart disease in children; in one series, the incidence was estimated to be 6 in 10,000 live births [1,2]. Obstruction can occur at valvular, subvalvular, and supravalvular levels (table 1). Valvular aortic stenosis is by far the most common, while subvalvar and supravalvar disease each accounts for 8 to 14 percent of cases [3,4].

The causes and clinical course of unoperated valvular aortic stenosis due to a bicuspid aortic valve in adults will be emphasized here. The treatment of bicuspid aortic valve stenosis in adults and issues related to pregnancy in women with a bicuspid aortic valve are discussed separately. (See "Treatment of bicuspid aortic valve stenosis in adults" and "Pregnancy in women with a bicuspid aortic valve".)

Valvular aortic stenosis — Congenital valvular aortic stenosis is most often due to a bicuspid or bicommissural aortic valve. Affected patients usually have other cardiovascular abnormalities, including abnormal histology of the media of the ascending aorta and coarctation of the aorta. (See 'Associated aortic and cardiac anomalies' below.)

Less common forms of congenital AS include unicommissural or unicuspid aortic valves, in which two of the three commissures are fused, and aortic annular hypoplasia, which may be an isolated abnormality or may be associated with leaflet abnormalities. These rarer forms of congenital aortic stenosis are often associated with severe obstruction to left ventricular outflow and heart failure in infancy. (See "Valvar aortic stenosis in children".)

Subvalvular aortic stenosis — Subvalvar aortic stenosis is also called subaortic stenosis. It can be caused by a fixed obstruction, or may have a dynamic component that is primarily due to the genetic disease hypertrophic obstructive cardiomyopathy (previously called idiopathic hypertrophic subaortic stenosis). (See "Pathophysiology of obstructive hypertrophic cardiomyopathy".)
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