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Genetic spectrum of cardiomyopathies with neuromuscular phenotype

Anna Kostareva1, Thomas Sejersen, Gunnar Sjoberg

  • 1Almazov Federal Heart, Blood and Endocrinology Centre, St. Petersburg, Russia.

Frontiers in Bioscience (Scholar Edition)
|January 2, 2013
PubMed

Insights

Cardiac and neuromuscular disorders frequently coexist. Cardiomyopathy can signal underlying neuromuscular conditions, necessitating thorough investigation in affected patients.

Area of Science:

  • Cardiology
  • Neurology
  • Genetics

Background:

  • Neuromuscular disorders often present with cardiac disease, though symptoms can be masked by reduced physical activity.
  • Cardiomyopathy or cardiac arrhythmias may be the initial manifestation of an undiagnosed neuromuscular disorder.

Purpose of the Study:

  • To review genetic disorders with combined muscular and cardiac symptoms.
  • To highlight specific signs and symptoms for each disorder.
  • To emphasize the importance of screening for neuromuscular disorders in cardiac patients.

Main Methods:

  • Literature review of genetic disorders affecting both muscle and heart.
  • Analysis of genetic associations between cardiomyopathies and neuromuscular disorders.
  • Compilation of clinical features for specific myopathies.

Main Results:

  • Over 40 genes linked to cardiomyopathies, with 25% also causing neuromuscular disorders.
  • Key genetic disorders reviewed include dystrophinopathies, laminopathies, myotonic dystrophy, desmin-related myopathy, congenital muscular dystrophies, and limb-girdle muscular dystrophies.
  • Specific clinical presentations differentiate these genetic conditions.

Conclusions:

  • A significant genetic overlap exists between cardiac and neuromuscular disorders.
  • Investigating for underlying neuromuscular conditions is crucial for patients with cardiomyopathy or cardiac arrhythmias.
  • Early diagnosis facilitates timely management and genetic counseling.

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