A heart so black: a case of alkaptonuric ochronosis of the aortic and mitral valves in a female patient with severe aortic valve stenosis and coronary artery disease

一颗漆黑的心:一名患有严重主动脉瓣狭窄和冠状动脉疾病的女性患者,其主动脉瓣和二尖瓣均出现尿黑酸症。

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Abstract

Alkaptonuric ochronosis, characterized by the deposition of homogentisic acid in connective tissues, is commonly linked with alkaptonuria, a rare genetic disorder resulting from homogentisate 1,2-dioxygenase deficiency. Despite its association with alkaptonuria, ochronosis can occur in individuals without a prior diagnosis. This case report discusses a 64-year-old female with severe aortic valve stenosis and coronary artery disease who was found to have ochronotic pigmentation in the aortic and mitral valves, as well as in the aortic root intima and papillary muscles. This case emphasizes the need to consider ochronosis in the differential diagnosis of valvular disease when alkaptonuria is suspected.

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