Clinical analysis of five infants with glycogen storage disease of the heart--Pompe's disease.
Five cases of infant glycogen storage disease of the heart are reported. Their ages ranged from 2 to 7 months. They all presented with generalized hypotonia and respiratory tract infections. Four of the diagnosis were proven by skeletal muscle biopsy and enzymatic assay of alpha-1,4-glucosidase. All 5 infants had clinical signs of cardiac failure, cardiomegaly shown by chest X-ray, short PR intervals, severe left or bi-ventricular hypertrophy shown on electrocardiograms, increased thickness of the right and left ventricular walls and interventricular septum both on M-mode and two-dimensional echocardiograms and angiocardiograms. Four of them died during the follow-up period with a mean age at death of 7.5 months.
Hwang
B
B
Meng
C C
CC
Lin
C Y
CY
Hsu
H C
HC
D009202:Cardiomyopathies / Q000175:diagnosis* / Q000473:pathology; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000473:pathology; D006330:Heart Defects, Congenital / Q000150:complications; D006439:Hemodynamics; D006801:Humans; D007223:Infant; D008297:Male; D013902:Radiography, Thoracic; D012141:Respiratory Tract Infections / Q000150:complications