Cardiac comorbidities in McArdle disease: case report and systematic review.

ABSTRACT:

Introduction and methods

Myophosphorylase deficiency, also known as McArdle disease or Glycogen Storage Disease type V (GSD-V), is an autosomal recessive metabolic myopathy that results in impaired glycogen breakdown in skeletal muscle. Despite being labelled as a "pure myopathy," cardiac involvement has been reported in some cases, including various cardiac abnormalities such as electrocardiographic changes, coronary artery disease, and cardiomyopathy. Here, we present a unique case of a 72-year-old man with GSD-V and both mitral valvulopathy and coronary artery disease, prompting a systematic review to explore the existing literature on cardiac comorbidities in McArdle disease.

Results

Our systematic literature revision identified 7 case reports and 1 retrospective cohort

SUBMITTER: Hoxhaj D 

PROVIDER: S-EPMC11422453 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature