Congenital calcified unicuspid aortic valve with isolated aortic insufficiency without stenosis, and calcific retinal emboli

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.