Literature record
Unforeseen cardiac involvement in McArdle's disease.
PMID 23337261 | DOI 10.1016/j.hlc.2012.12.004 · Heart, lung & circulation · 2013
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.
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | glycogen storage disease | “McArdle's disease (glycogen storage disease type V) is a rare autosomal recessive metabolic myopathy due to myophosphorylase deficiency.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | cardiomyopathy | “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.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | congenital myopathy | “McArdle's disease (glycogen storage disease type V) is a rare autosomal recessive metabolic myopathy due to myophosphorylase deficiency.” | 0.93 | phenotype_alias_lexicon_v2 |