Ochronosis as an unusual cause of valvular defect: a case report

IntroductionAlkaptonuria (also known as ochronosis) is a genetic disorder characterised by the accumulation of homogentisic acid deposits in connective tissue. In rare cases, ochronosis can cause valvular heart disease.Case presentationWe present the case of a 68-year-old Caucasian man with alkaptonuria-associated degenerative valvular defects with aortic, mitral and tricuspid valve insufficiency.

The patient did not have any cardiac complaints and was referred to our clinic for evaluation of a conspicuous new heart murmur.

Conclusion: This case report shows that early diagnosis of cardiovascular ochronosis gives us the opportunity to use conservative treatment to slow down the progression of valvular dysfunction.

Author: Andreas WilkeDietmar Steverding
Credits/Source: Journal of Medical Case Reports 2009, 3:9302

Published on: 2009-11-27

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