Document Detail

Echocardiographic study of paediatric patients with mucopolysaccharidosis.
MedLine Citation:
PMID:  20416133     Owner:  NLM     Status:  MEDLINE    
PRINCIPLE: Mucopolysaccharidosis is an inborn error of metabolism causing glucosaminoglycans tissue storage. Cardiovascular involvement is variable but contributes significantly towards the morbidity and mortality of the patients. OBJECTIVE: To characterise the echocardiographic abnormalities in children and adolescents with different types of mucopolysaccharidosis. METHOD: Echocardiograms and medical records of 28 patients aged 2-14 years, seen from 2003 to 2005, were revised. At that time, the enzymatic replacement therapy was still not available in our institution. RESULTS: Echocardiographic alterations were detected in 26 patients (93%), whereas 16 (57%) had abnormal auscultation, and only 6 (21%) presented with cardiovascular complaint. Mitral valve thickening with dysfunction (regurgitation, stenosis, or double lesion) was diagnosed in 60.8%, left ventricular hypertrophy in 43% and aortic valve thickening with regurgitation in 35.8% of the patients. There was no systolic dysfunction and mild left diastolic dysfunction was shown in 21.5% of the patients. Pulmonary hypertension was present in 36% of the patients, causing the only two deaths recorded. There was a strong association between the accumulation of dermatan sulphate and the presence of mitral valve dysfunction (p = 0.0003), aortic valve dysfunction (p = 0.006), and pulmonary hypertension (p = 0.006). Among individuals with two or more examinations, 82% had a worsening evolution. CONCLUSIONS: Echocardiographic alterations in children with Mucopolysaccharidosis are frequent and have a progressive character. Left valve lesions, ventricular hypertrophy, and pulmonary hypertension were the most common findings and there was an association between the accumulation of dermatan sulphate and cardiovascular involvement. Unlike in adults, pulmonary hypertension was the main cause of death, not left ventricle systolic dysfunction.
Gabriela N Leal; Ana C de Paula; Cláudio Leone; Chong A Kim
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Publication Detail:
Type:  Comparative Study; Journal Article     Date:  2010-04-26
Journal Detail:
Title:  Cardiology in the young     Volume:  20     ISSN:  1467-1107     ISO Abbreviation:  Cardiol Young     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-05-12     Completed Date:  2010-09-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9200019     Medline TA:  Cardiol Young     Country:  England    
Other Details:
Languages:  eng     Pagination:  254-61     Citation Subset:  IM    
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, SP, Brasil. <>
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MeSH Terms
Aortic Valve*
Blood Flow Velocity
Brazil / epidemiology
Cause of Death / trends
Child, Preschool
Diagnosis, Differential
Disease Progression
Echocardiography / methods*
Follow-Up Studies
Heart Valve Diseases / etiology*,  physiopathology,  ultrasonography
Hypertension, Pulmonary / etiology,  physiopathology,  ultrasonography
Hypertrophy, Left Ventricular / etiology,  physiopathology,  ultrasonography
Mitral Valve*
Mucopolysaccharidoses / complications,  mortality,  ultrasonography*
Retrospective Studies
Survival Rate / trends

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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