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  • Title: A black heart: Aortic valve ochronosis secondary to alkaptonuria causing aortic stenosis.
    Author: Vo T, Edwards JRM.
    Journal: J Card Surg; 2021 Feb; 36(2):758-760. PubMed ID: 33386753.
    Abstract:
    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.
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