An interesting case of infant sudden death: severe hypertrophic cardiomyopathy in Pompe's disease

Pacing Clin Electrophysiol. 1999 May;22(5):821-2. doi: 10.1111/j.1540-8159.1999.tb00551.x.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • 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
  • Lysosomes / metabolism
  • Lysosomes / pathology
  • Male
  • Radiography, Thoracic
  • Skin / blood supply

Substances

  • Glycogen