Congenital calcified unicuspid aortic valve with isolated aortic
insufficiency without stenosis, and calcific retinal emboli
Abstract
Unicuspid aortic valve (UAV) is a very rare congenital anomaly with an
estimated prevalence of 1 in 5000 in the adult population. It is often
diagnosed by a 2D or 3D Transthoracic Echocardiogram (TTE) or
Transesophageal Echocardiogram (TEE) [1]. Its usual presentation is
in the third decade of life often as symptomatic aortic stenosis (AS).
Rheumatic heart disease typically does not involve the aortic valve
anatomically without also involving the mitral valve. Although the
mitral valve may be diffusely abnormal anatomically, its function can be
normal. Consequently, a patient with rheumatic heart disease can present
initially with only aortic valve dysfunction, and therefore rheumatic
heart disease has to be considered a cause of functionally isolated AS ±
aortic insufficiency (AI), or pure AI. We present a case of a
25-year-old male with a history of longstanding rheumatic fever and a
recent embolic event to the left eye, who was seen in consultation for
moderate AI and mobile calcification of the aortic valve with possible
bicuspid valve by TEE. The echocardiogram also showed evidence of
rheumatically deformed mitral valve with evidence of trace mitral
regurgitation (MR). The patient was thought to have rheumatic valvular
disease and planned for an aortic valve repair or replacement with a
mechanical valve. During the surgery however, an UAV was found. It was
replaced with a mechanical valve. The patient did well post-operatively
and was discharged home five days later.