Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review

Eloisa Arbustini, Alessandro Di Toro, Lorenzo Giuliani, Valentina Favalli, Nupoor Narula, Maurizia Grasso

Research output: Contribution to journalReview articlepeer-review


Hereditary muscular diseases commonly involve the heart. Cardiac manifestations encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm disorders. Common biomarkers suggesting cardiomuscular diseases include increased circulating creatine kinase and/or lactic acid levels or disease-specific metabolic indicators. Cardiac and extra-cardiac traits, imaging tests, family studies, and genetic testing provide precise diagnoses. Cardiac phenotypes are mainly dilated and hypokinetic in dystrophinopathies, Emery-Dreifuss muscular dystrophies, and limb girdle muscular dystrophies; hypertrophic in Friedreich ataxia, mitochondrial diseases, glycogen storage diseases, and fatty acid oxidation disorders; and restrictive in myofibrillar myopathies. Left ventricular noncompaction is variably associated with the different myopathies. Conduction defects and arrhythmias constitute a major phenotype in myotonic dystrophies and skeletal muscle channelopathies. Although the actual cardiac management is rarely based on the cause, the cardiac phenotypes need precise characterization because they are often the only or the predominant manifestations and the prognostic determinants of many hereditary muscle disorders.

Original languageEnglish
Pages (from-to)2485-2506
Number of pages22
JournalJournal of the American College of Cardiology
Issue number20
Publication statusPublished - Nov 13 2018


  • arrhythmias
  • cardiomyopathies
  • dystrophy
  • myopathy
  • skeletal muscle

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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