Apical Hypertrophic Cardiomyopathy in an Infant: First Presentation of Pompe's Disease

World J Pediatr Congenit Heart Surg. 2014 Jul;5(3):491-3. doi: 10.1177/2150135114526421.

Abstract

Pompe's disease is a type II glycogen storage disorder resulting from deficiency of α-1,4 glucosidase. It is usually associated with dilated or hypertrophic cardiomyopathy. Association of apical hypertrophic cardiomyopathy is rarely seen. We present a case of a ten-month-old baby with clinical features of both apical hypertrophic cardiomyopathy and Pompe's disease.

Keywords: Pompe’s disease; apical cardiomyopathy; infantile.

Publication types

  • Case Reports

MeSH terms

  • Cardiomyopathy, Hypertrophic / diagnosis
  • Cardiomyopathy, Hypertrophic / etiology*
  • Echocardiography
  • Electrocardiography
  • Female
  • Glycogen Storage Disease Type II / complications*
  • Heart Rate / physiology
  • Humans
  • Infant