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Cardiac Pathology in Glycogen Storage Disease Type III

S L Austin1, A D Proia, M J Spencer-Manzon

  • 1Departments of Pediatrics, Duke University Medical Center, GSRB1, 595 South La Salle Street, DUMC 103857, Durham, NC, 27710, USA, stephanie.austin@duke.edu.

JIMD Reports
|February 23, 2013
PubMed

Insights

Glycogen accumulation in heart muscle and vessels is common in Glycogen Storage Disease (GSD) III. This can lead to heart failure and arrhythmias in affected individuals.

Area of Science:

  • Cardiology
  • Genetics
  • Pathology

Background:

  • Glycogen Storage Disease (GSD) III is a rare genetic disorder affecting glycogen metabolism.
  • Cardiac involvement is a known complication of GSD III, but its specific manifestations require further elucidation.

Purpose of the Study:

  • To investigate the distribution and clinical impact of glycogen accumulation on heart structure and function in individuals with GSD III.

Main Methods:

  • Examination of cardiac tissue and clinical records from three GSD IIIa patients.
  • Analysis included macro- and microscopic assessment of cardiac structures.

Main Results:

  • Observed cardiac fibrosis, myocyte vacuolation, and glycogen accumulation in the AV node.
  • Significant glycogen deposition in intramyocardial arteries led to hyperplasia and thickened vascular walls.

Conclusions:

  • Findings demonstrate diffuse cardiac involvement in GSD III patients.
  • Potential for serious arrhythmias and symptomatic heart failure necessitates careful patient management.
Abstract

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