Aortic stenosis in endogenous ochronosis.
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.
Casselman
F
F
Department of Cardiac Surgery, University Hospital Gasthuisberg, Leuven, Belgium.
Herijgers
P
P
Meyns
B
B
Daenen
W
W
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