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Indexed/Abstracted in: EMBASE, Scopus, Emerging Sources Citation Index
Online ISSN 1827-1782
Cullen M. W., Nath D. S., Dobrescu C., Eickstaedt J., N. Edwards M.
Division of Cardiothoracic Surgery University of Wisconsin, Madison, WI, USA
Alkaptonuria is a rare, inborn error of metabolism resulting in elevated levels of homogentisic acid (HGA). HGA deposition can trigger tissue destruction. This case describes a patient with known aortic stenosis secondary to alkaptonuria who underwent aortic valve replacement complicated by inherent soft-tissue abnormalities. Other complications of alkaptonuria include early-onset degenerative arthritis, renal stone formation, and possibly atherosclerosis. Treatment involves surgical replacement of affected joints and heart valves. As longevity of patients with alkaptonuria increases, cardiovascular manifestations become more prevalent.