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  • Title: Alkaptonuria-associated aortic stenosis.
    Author: Lok ZS, Goldstein J, Smith JA.
    Journal: J Card Surg; 2013 Jul; 28(4):417-20. PubMed ID: 23879342.
    Abstract:
    Alkaptonuria is an autosomal recessive disorder of tyrosine metabolism, which results in accumulation of unmetabolized homogentisic acid and its oxidized product in various tissues, including the heart. Cardiovascular involvement is a rare but serious complication of the disease. We present two patients who have undergone successful aortic valve replacement for alkaptonuria-associated aortic stenosis along with a review of the literature.
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