Unicuspid Aortic Valve in a 34 year old woman
34 year old female, diagnosed at age 10 with Turner's syndrome and known congenital aortic stenosis presented with new onset dyspnea on exertion.
Physical exam showed characteristic features of Turner's syndrome including short stature and mild neck webbing. Cardiac exam revealed a 3/6 crescendo/ decrescendo systolic ejection murmur. Lungs were clear, no jugular venous distention or carotid bruits. On transthoracic echocardiogram she had a thickened aortic valve with restricted mobility and moderately severe aortic stenosis. She had moderate aortic regurgitation as well as left atrial prominence and an ejection fraction of 75%. Cardiac catheterization revealed severe aortic stenosis with post-stenotic dilation as well as a hypertrophied left ventricle and normal coronaries.
Intraoperative transesophageal echocardiography showed a thickened and calcified unicuspid single commissure . The aorta was also calcified at the base and posterior wall and the ascending aorta was enlarged at 4.2 cm. A St. Jude aortic valve was placed. The patient's postoperative course was uncomplicated.
Unicuspid aortic valve:
Discussion
The incidence of unicuspid aortic valve is rare. The valve may have three fused cusps with the stenotic central orifice. In some patients, the stenotic aortic valve is unicuspid and dome-shaped with no- or one lateral attachment to the aorta at the level of the orifice. Valve function is usually characterized by severe immobility and little or no systolic opening. Post-stenotic aortic dilation, left ventricular hypertrophy, and right ventricular enlargement may also be seen. The most important associated anomaly is severe aortic arch obstruction. Infants and children with severe aortic stenosis may have an underdeveloped aortic valve ring which may be associated with hypoplastic left heart syndrome and aortic
atresia.
Short axis view shows a single circular opening of the aortic valve confirming that it is unicuspid rather than bicuspid.
Long axis view shows the doming of the valve. It requires the short axis view to determine if the valve is bicuspid or unicuspid
Chest x-ray shows a right aortic arch. Congenital right aortic arches may be associated with tetralogy of Fallot and other syndromes, but in this case it is merely associated with a unicuspid aortic valve.
Aortic root injection shows the right aortic arch and the doming of the unicuspid aortic valve leaflets.
