RT Journal Article
SR Electronic
T1 Aortic stenosis in cardiovascular ochronosis
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 92
OP 93
DO 10.1136/jcp.2005.032417
VO 60
IS 1
A1 L V Ffolkes
A1 D Brull
A1 S Krywawych
A1 M Hayward
A1 S E Hughes
YR 2007
UL http://jcp.bmj.com/content/60/1/92.abstract
AB Alkaptonuria (endogenous ochronosis) is a rare metabolic disorder caused by a deficiency of homogentisic acid oxidase, an enzyme responsible for the metabolic degradation of tyrosine. Patients with alkaptonuria commonly present with joint pain owing to degenerative arthritis. Other affected patients may present with pigmentation of the ear cartilage and sclera. This article reports a case of aortic stenosis associated with ochronosis in a 48-year-old man who presented with severe cardiac failure. He had no previous diagnosis of alkaptonuria, which was confirmed by mass spectrometry analysis of urine. The pathogenesis of cardiovascular ochronosis is unclear, but is probably related to the extensive extracellular deposits of ochronotic pigment in the cardiac tissue.