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Desminopathy: A Rare Cause of Cardiac Arrhythmia

Henry Ward1, Hayley Nehoff1, Ozayr Ameen2

  • 1Department of Cardiology, Christchurch Hospital, Christchurch, New Zealand.

JACC. Case Reports
|August 10, 2026
PubMed

Insights

Desminopathy, a rare genetic disorder affecting muscle, can present with severe cardiac arrhythmias like ventricular fibrillation. Researchers identified a novel desmin gene mutation linked to these cardiac events and skeletal myopathy.

Area of Science:

  • Genetics
  • Cardiology
  • Neurology

Background:

  • Desminopathy is a rare genetic disorder affecting the desmin intermediate filament network.
  • It is caused by mutations in the desmin gene (DES).
  • While often leading to cardiomyopathy and skeletal myopathy, cardiac arrhythmia is an uncommon presentation.
Abstract

Keywords:
arrhythmiacardiomyopathydesmindesminopathymyopathy

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