Quadricuspid aortic valve presenting as severe aortic insufficiency

Echo studies

42-year-old female presented with shortness of breath and substernal chest pain. An aortic regurgitation murmur was found at age 32. Until recently she was asymptomatic . Progression of symptoms unrelieved by ACE inhibitors and diuretic therapy lead to surgery.

Exam

Cardiac auscultation: II/VI systolic and III/VI diastolic murmur at right upper sternal border. Carotid pulses were exaggerated, lungs were clear and there was no pretibial edema. EKG showed LVH.
Transthoracic echo: LV dilatation, normal wall thickness and severe aortic regurgitation.
Cardiac cath: LV dilatation, ejection fraction = 47%. Cardiac output: 2.81 L/min. Right heart pressures and coronary anatomy were normal; no gradient across the aortic valve. Aortography demonstrated 3-4+ aortic insufficiency and a normal appearing ascending aorta.

Surgery

At surgery, short axis TEE showed an X-shaped aortic valve commissure, diagnostic of a quadricuspid valve (QAV). Inspection in situ showed three normal-size cusps with a smaller accessory cusp. There was no inflammation, fibrosis or calcification of the leaflets. Coronary ostia were normal. A 21-mm St. Jude prosthetic valve was placed. The patient recovered without complications.

Discussion...