Document Detail


Left ventricular aneurysm in an adult patient with mucopolysaccharidosis type I: Comment on pathogenesis of a novel complication.
MedLine Citation:
PMID:  22732207     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disease caused by deficiency of the lysosomal enzyme alpha-L-iduronidase. This enzyme is involved in the degradation of the glycosaminoglycans (GAGs) dermatan and heparan sulphate and its deficiency results in the accumulation of GAGs and a progressive multisystem disease. Cardiac involvement is common in MPS patients and usually consists of progressive valvular thickening with incompetence and cardiomyopathy. We present an attenuated MPS I patient with a primary apical left ventricular aneurysm not associated with ischemia. We speculate that the defect in GAG catabolism leads not only to the storage of GAGs but also to alterations of the myocardial extracellular matrix. The latter ultimately being responsible for the formation of the aneurysm. This case emphasizes the importance of careful surveillance for cardiac lesions in MPS patients.
Authors:
Gustavo H Cabrera; Isabel Fernández; Marcelo Dominguez; Lorne A Clarke
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-6-13
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  -     ISSN:  1096-7206     ISO Abbreviation:  -     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-6-26     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Elsevier Inc. All rights reserved.
Affiliation:
Division of Cardiology, Del Viso Medical Group, Buenos Aires, Argentina.
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