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 of glycogen in the heart and other tissues. Pompe's disease should be considered in cases of unexplained infantile cardiomyopathy.
Metzl
J D
JD
Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Massachusetts, USA.
Elias
E R
ER
Berul
C I
CI
D001706:Biopsy; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications* / Q000000981:diagnostic imaging; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D004452:Echocardiography; D004562:Electrocardiography; D004730:Endothelium, Vascular / Q000648:ultrastructure; D017809:Fatal Outcome; D005500:Follow-Up Studies; D006003:Glycogen / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007223:Infant; D008247:Lysosomes / Q000378:metabolism / Q000473:pathology; D008297:Male; D013902:Radiography, Thoracic; D012867:Skin / Q000098:blood supply
D006003:Glycogen