Aortic stenosis in endogenous ochronosis

Citation
F. Casselman et al., Aortic stenosis in endogenous ochronosis, J HEART V D, 8(4), 1999, pp. 445-446
Citations number
7
Categorie Soggetti
Cardiovascular & Respiratory Systems
Journal title
JOURNAL OF HEART VALVE DISEASE
ISSN journal
09668519 → ACNP
Volume
8
Issue
4
Year of publication
1999
Pages
445 - 446
Database
ISI
SICI code
0966-8519(199907)8:4<445:ASIEO>2.0.ZU;2-O
Abstract
Endogenous ochronosis, a rare inherited disease of tyrosine metabolism, is caused by a deficiency of the enzyme, homogentisic acid oxidase, and may le ad to cardiovascular involvement seen most frequently as aortic valve steno sis. We report the case of a patient with generalized ochronosis who develo ped cardiovascular symptoms due to aortic valve stenosis and who underwent aortic valve replacement.