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Ochronosis as an unusual cause of valvular defect: a case report.
MedLine Citation:
PMID:  20062791     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Andreas Wilke; Dietmar Steverding
Publication Detail:
Type:  Journal Article     Date:  2009-11-27
Journal Detail:
Title:  Journal of medical case reports     Volume:  3     ISSN:  1752-1947     ISO Abbreviation:  J Med Case Rep     Publication Date:  2009  
Date Detail:
Created Date:  2010-01-11     Completed Date:  2011-07-14     Revised Date:  2012-05-16    
Medline Journal Info:
Nlm Unique ID:  101293382     Medline TA:  J Med Case Rep     Country:  England    
Other Details:
Languages:  eng     Pagination:  9302     Citation Subset:  -    
Affiliation:
Kardiologische Praxis Papenburg, Papenburg, Germany.
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