title: 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: Division of Cardiovascular Diseases, Peter Lougheed Hospital, University of Calgary, Calgary, Alberta, Canada; Division of Cardiovascular Diseases, Prince Salman Heart Center, King Fahad Medical City, Riyadh, Saudi Arabia.
authors: Sherif
authors: S
authors: Moustafa
authors: David J
authors: DJ
authors: Patton
authors: Michael S
authors: MS
authors: Connelly
mesh_terms: D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D006012:Glycogen Storage Disease Type V / Q000150:complications / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008297:Male; D009206:Myocardium / Q000473:pathology*; D012720:Severity of Illness Index
keywords: Cardiac involvement; Echocardiography; Magnetic resonance; McArdle's disease