title: Aortic stenosis in endogenous ochronosis.
abstract: Endogenous ochronosis, a rare inherited disease of tyrosine metabolism, is caused by a deficiency of the enzyme, homogentisic acid oxidase, and may lead to cardiovascular involvement seen most frequently as aortic valve stenosis. We report the case of a patient with generalized ochronosis who developed cardiovascular symptoms due to aortic valve stenosis and who underwent aortic valve replacement.
authors.affiliation: Department of Cardiac Surgery, University Hospital Gasthuisberg, Leuven, Belgium.
authors.forename: F
authors.initials: F
authors.lastname: Casselman
authors.forename: P
authors.initials: P
authors.lastname: Herijgers
authors.forename: B
authors.initials: B
authors.lastname: Meyns
authors.forename: W
authors.initials: W
authors.lastname: Daenen
mesh_terms: D000368:Aged; D001021:Aortic Valve / Q000473:pathology; D001024:Aortic Valve Stenosis / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D005260:Female; D019918:Heart Valve Prosthesis Implantation; D006801:Humans; D009794:Ochronosis / Q000150:complications* / Q000473:pathology