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

Wilke, Andreas and Steverding, Dietmar (2009) Ochronosis as an unusual cause of a valvular defect: a case report. Journal of Medical Case Reports, 3. ISSN 1752-1947

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INTRODUCTION: Alkaptonuria (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 PRESENTATION: We 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.

Item Type: Article
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
Depositing User: EPrints Services
Date Deposited: 25 Nov 2010 11:13
Last Modified: 23 Oct 2022 01:46
URI: https://ueaeprints.uea.ac.uk/id/eprint/15093
DOI: 10.1186/1752-1947-3-9302

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