JOURNAL ARTICLE
REVIEW

Alkaptonuria-associated aortic stenosis

Zoe S Y Lok, Jacob Goldstein, Julian A Smith
Journal of Cardiac Surgery 2013, 28 (4): 417-20
23879342
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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