[Severe cardiomyopathy revealing amylopectinosis. Two cases in adolescents from the same family]

Presse Med. 1994 Jun 25;23(24):1124-7.
[Article in French]

Abstract

Type IV glycogen storage disease, also termed Andersen's disease or amylopectinosis, is a rare autosomic recessive hereditary disease usually caused by a deficit in glycogen branching enzyme. We report our observation of two siblings with type IV glycogen storage disease who had normal branching enzyme activity. The initial symptom was severe heart failure. A 14-year-old boy, born to consanguinous parents, was seen for severe global heart failure. Growth retardation had been diagnosed since the age of 6 and abnormal fatigability since the age of 12. Muscle and endomyocardium biopsies revealed abnormal glycogen storage with normal branching enzyme activity. The patient's condition improved after symptomatic treatment, but death occurred due to infectious complications after orthoptic heart transplantation. One year later, the proband's 12-year-old sister, with an uneventful personal medical history, was hospitalized for severe left ventricular failure. Muscle and liver biopsies demonstrated the same anomalies, again without branching enzyme deficiency in the liver. Heart failure was controlled with symptomatic care and the patient's current condition remains satisfactory. This observation demonstrates the clinical expression of familial type IV glycogen storage disease in patients with normal branching enzyme activity. Age at onset is quite variable, reported from 5 to 70 years, as is the clinical course before diagnosis.

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Adolescent
  • Child
  • Consanguinity
  • Fatal Outcome
  • Female
  • Glycogen Storage Disease Type IV / complications*
  • Glycogen Storage Disease Type IV / genetics
  • Heart Failure / etiology*
  • Heart Failure / surgery
  • Heart Transplantation
  • Humans
  • Male