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Echocardiographic study of paediatric patients with mucopolysaccharidosis

Published online by Cambridge University Press:  26 April 2010

Gabriela N. Leal ,
Ana C. de Paula ,
Cláudio Leone  and
Chong A. Kim
Gabriela N. Leal*
Affiliation:
Serviço de Ecocardiografia do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil
Ana C. de Paula
Affiliation:
Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil
Cláudio Leone
Affiliation:
Departamento de Saúde Materno-Infantil, Faculdade de Saúde Pública da Universidade de São Paulo, São Paulo, SP, Brasil
Chong A. Kim
Affiliation:
Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil
*
Correspondence to: Dr G. N. Leal, Rua Pageú 100, ap 142, Chácara Inglesa, Zip code: 04139 000, São Paulo, SP, Brasil. Tel and Fax: +55 11 2578 76 73; E-mail: gnleal@gmail.com
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Abstract

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.

Keywords

Aortic valvelysosomal storage diseasesleft ventricular hypertrophymitral valvepulmonary hypertension
Type
Original Articles
Information
Cardiology in the Young , Volume 20 , Issue 3 , June 2010 , pp. 254 - 261
Copyright
Copyright © Cambridge University Press 2010

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