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J Card Surg. 2013 Jul;28(4):417-20. doi: 10.1111/jocs.12129.

Alkaptonuria-associated aortic stenosis.

Author information

1
Department of Cardiothoracic Surgery, Monash Health, Clayton, Victoria, Australia.

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.

PMID:
23879342
DOI:
10.1111/jocs.12129
[Indexed for MEDLINE]

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