title: Alkaptonuria-associated aortic stenosis.
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.
authors.affiliation: Department of Cardiothoracic Surgery, Monash Health, Clayton, Victoria, Australia.
authors.forename: Zoe S Y
authors.initials: ZS
authors.lastname: Lok
authors.forename: Jacob
authors.initials: J
authors.lastname: Goldstein
authors.forename: Julian A
authors.initials: JA
authors.lastname: Smith
mesh_terms: D000368:Aged; D000474:Alkaptonuria / Q000150:complications* / Q000378:metabolism; D001021:Aortic Valve / Q000473:pathology / Q000601:surgery; D001024:Aortic Valve Stenosis / Q000209:etiology* / Q000473:pathology / Q000601:surgery*; D006350:Heart Valve Prosthesis; D019918:Heart Valve Prosthesis Implantation; D006713:Homogentisic Acid / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D009206:Myocardium / Q000378:metabolism; D016896:Treatment Outcome; D014443:Tyrosine / Q000378:metabolism
chemical_list: D014443:Tyrosine; D006713:Homogentisic Acid