Echocardiographic and pulsed Doppler features in glycogen storage disease type II of the heart (Pompe's disease).
Acta Cardiol
; 46(1): 107-14, 1991.
Article
em En
| MEDLINE
| ID: mdl-1827699
ABSTRACT
Two cases of cardiac glycogen storage disease type II are described the first one, male aged 3 months, presented with generalized muscular hypotonia and decreased deep tendon reflexes; a 2/6 systolic murmur was audible at the left sternal border; chest X-ray and ECG were consistent with left ventricular hypertrophy; an echocardiogram disclosed an impressive and diffuse cardiac hypertrophy; the pump function appeared preserved and the estimated ejection fraction was about 70%. Pulsed wave Doppler demonstrated a normal envelope of mitral flow with E/A ratio = 1.27 in averaged 20 beats. The patient died suddenly at 6 months of age. The second patient was a female 4 months old with generalized muscular hypotonia. ECG and chest X-ray were consistent with left ventricular hypertrophy; 2D echocardiogram showed diffuse hypertrophy with estimated ejection fraction of 68% and an almost normal aspect of the mitral flow curve, with E/A ratio of 1.18. This child died at 13 months of age of cardiopulmonary insufficiency. In both cases the diagnosis was made by muscular biopsy and biochemical tests (alpha 1-4 glucosidase deficiency). We stress the fact that, despite the severe and diffuse hypertrophy, the pump function and the ventricular filling did not seem compromised.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ecocardiografia
/
Ecocardiografia Doppler
/
Doença de Depósito de Glicogênio Tipo II
/
Cardiomegalia
Tipo de estudo:
Etiology_studies
Limite:
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Acta Cardiol
Ano de publicação:
1991
Tipo de documento:
Article