Unforeseen cardiac involvement in McArdle's disease.

Abstract

McArdle's disease (glycogen storage disease type V) is a rare autosomal recessive metabolic myopathy due to myophosphorylase deficiency. It classically manifests by exercise intolerance, leg cramps, muscle pain and occasionally exercise induced myoglobinuria. The onset of exercise intolerance is typically in the second or third decades of life. It has a specific predilection to skeletal muscle involvement, yet cardiac muscle involvement is very rare. This report describes an unusual case of a 33 year-old man with known McArdle's disease who presented with an incidental finding of severe obstructive hypertrophic cardiomyopathy.

• Authors: Sherif Moustafa, David J Patton, Michael S Connelly
• Journal: Heart, lung & circulation (Heart Lung Circ) Vol. 22 Issue 9 Pg. 769-71 (Sep 2013) ISSN: 1444-2892 [Electronic] Australia
• PMID: 23337261 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2012 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.

Topics

• Adult
• Cardiomyopathy, Hypertrophic (etiology, pathology, physiopathology)
• Glycogen Storage Disease Type V (complications, pathology, physiopathology)
• Humans
• Male
• Myocardium (pathology)
• Severity of Illness Index