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Alkaptonuria-associated aortic stenosis

Zoe S Y Lok, Jacob Goldstein, Julian A Smith

Journal of Cardiac Surgery 2013, 28 (4): 417-20

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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