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Journal of Medical Case Reports

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Open Access 01-12-2009 | Case report

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

Authors: Andreas Wilke, Dietmar Steverding

Published in: Journal of Medical Case Reports | Issue 1/2009

Abstract

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.

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Title: Ochronosis as an unusual cause of valvular defect: a case report
Authors: Andreas Wilke
Dietmar Steverding
Publication date: 01-12-2009
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2009
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/1752-1947-3-9302

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Introduction

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Case presentation

Conclusion

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