Cardiac comorbidities in McArdle disease: case report and systematic review.
Domeniko HoxhajGabriele VadiLorenzo BianchiLorenzo FontanelliFrancesca TorriGabriele SicilianoGiulia RicciPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2024)
Despite McArdle disease primarily affecting skeletal muscle, cardiac involvement has been observed, especially coronary artery disease, the frequency of which was moreover found to be higher in McArdle patients than in the background population in a previous study from a European registry. Exaggerated cardiovascular responses during exercise and impaired glycolytic metabolism have been speculated as potential contributors. A comprehensive cardiological screening might be recommended for McArdle disease patients to detect and manage cardiac comorbidities. A multidisciplinary approach is crucial to effectively manage both neurological and cardiac aspects of the disease and improve patient outcomes. Further research is required to establish clearer pathophysiological links between McArdle disease and cardiac manifestations in order to clarify the existing findings.
Keyphrases
- systematic review
- end stage renal disease
- left ventricular
- coronary artery disease
- skeletal muscle
- newly diagnosed
- chronic kidney disease
- peritoneal dialysis
- randomized controlled trial
- type diabetes
- physical activity
- adipose tissue
- high intensity
- meta analyses
- climate change
- acute coronary syndrome
- patient reported outcomes
- cardiovascular events