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

Abstract

Introduction. Alkaptonuria (also known as ochronosis) is a genetic disorder characterised by the accumulation of homogentisic acid eposits in connective tissue. In rare cases, ochronosis can cause valvular eart disease. Case presentation. We present the case of a 68-year-old aucasian 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. © 2009 Wilke and Steverding; licensee BioMed Central Ltd.