Journal of Heart Valve Disease 1999-Jul
Aortic stenosis in endogenous ochronosis.
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Mots clés
Abstrait
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.
