A man in his early 70s with a medical history of alkaptonuria and hypertension was evaluated for a systolic heart murmur, exertional dyspnea, and fatigue with transthoracic echocardiography. Findings were consistent with moderate to severe aortic stenosis, which was confirmed with a left heart catheterization that revealed a severely stenotic aortic valve with an area of 0.61 cm2. The patient underwent aortic valve replacement, during which black discoloration of the aortic valve was discovered (Figure). Pathology revealed nodular calcification and focal pigment deposition. These findings are consistent with cardiac ochronosis. Alkaptonuria is an autosomal recessive disorder resulting from deficiency of the enzyme homogentisate dioxygenase causing accumulation of homogentisic acid in various connective tissues, which is termed ochronosis. Cardiac involvement can result in stenotic valve disease owing to degeneration of pigment-laden fibrocytes, which may in turn stimulate progressive dystrophic calcification and fibrosis of leaflet tissue.1
Butt K, Accola K. A Man in His Early 70s With Aortic Stenosis and Discoloration of the Aortic Valve. JAMA Cardiol. Published online September 18, 2019. doi:https://doi.org/10.1001/jamacardio.2019.3301
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