An Interesting Case of Infant Sudden Death: Severe Hypertrophic Cardiomyopathy in Pompe's Disease

Glycogen storage disease type II (Pompe's disease) is a rare inherited metabolic disorder, which often leads to infantile death from severe cardiomyopathy. This case of sudden death illustrates the features of the cardiac findings in the disorder, resulting from massive lysosomal accumulation o...

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Bibliographic Details
Published inPacing and clinical electrophysiology Vol. 22; no. 5; pp. 821 - 822
Main Authors METZL, JORDAN D., ELIAS, ELLEN R., BERUL, CHARLES I.
Format Journal Article
LanguageEnglish
Published Oxford, UK Blackwell Publishing Ltd 01.05.1999
Subjects
Biopsy
cardiomyopathy
Cardiomyopathy, Hypertrophic - complications
Cardiomyopathy, Hypertrophic - diagnostic imaging
Death, Sudden, Cardiac - etiology
Echocardiography
Electrocardiography
Endothelium, Vascular - ultrastructure
Fatal Outcome
Follow-Up Studies
Glycogen - metabolism
Glycogen Storage Disease Type II - complications
Glycogen Storage Disease Type II - metabolism
Glycogen Storage Disease Type II - pathology
Humans
Infant
infant sudden death
Lysosomes - metabolism
Lysosomes - pathology
Male
Pompe's disease
Radiography, Thoracic
Skin - blood supply
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Summary:Glycogen storage disease type II (Pompe's disease) is a rare inherited metabolic disorder, which often leads to infantile death from severe cardiomyopathy. This case of sudden death illustrates the features of the cardiac findings in the disorder, resulting from massive lysosomal accumulation of glycogen in the heart and other tissues. Pompe's disease should be considered in cases of unexplained infantile cardiomyopathy.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0147-8389
1540-8159
DOI:10.1111/j.1540-8159.1999.tb00551.x