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A black heart: Aortic valve ochronosis secondary to alkaptonuria causing aortic stenosis

Alkaptonuria is a rare autosomal recessive genetic disorder where an accumulation of homogentisic acid in the tissues leads to ochronosis—a pathological dark pigmentation. It can affect various tissues and the weight bearing joints of the body, leading to degenerative arthropathy. On the rare occasion, it causes cardiac manifestations. We describe a case of aortic valve stenosis due to ochronosis secondary to alkaptonuria requiring aortic valve replacement.