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Desmoplakin cardiomyopathy: recent updates in natural history and management

Lily Hoffman-Andrews1, Olivia G Anderson, Anjali Tiku Owens

  • 1Division of Cardiovascular Medicine, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

Current Opinion in Cardiology
|July 2, 2025
PubMed

Insights

Desmoplakin cardiomyopathy, a distinct genetic heart condition, presents unique challenges. Early identification through genetic testing is crucial for managing its specific risks, including sudden cardiac death.

Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • Desmoplakin gene variants are increasingly recognized as a cause of cardiomyopathy, distinct from other inherited heart muscle diseases.
  • This condition presents unique clinical challenges and a natural history that is beginning to be elucidated through recent large cohort studies.

Purpose of the Study:

  • To review the current literature on desmoplakin cardiomyopathy, focusing on its natural history and management.
  • To highlight recent findings from large cohort studies characterizing this distinct genetic cardiomyopathy.

Main Methods:

  • Literature review of recent studies on desmoplakin cardiomyopathy.
  • Analysis of data from the first large cohort studies on the disease's natural history and clinical presentation.

Main Results:

  • Desmoplakin cardiomyopathy is associated with characteristic episodic 'hot phases', cutaneous manifestations, and a significant risk of sudden cardiac death.
  • Emerging research is identifying gene-specific risk factors contributing to sudden cardiac death in affected individuals.

Conclusions:

  • Genetic testing for arrhythmogenic cardiomyopathy and recurrent myocarditis can identify patients with desmoplakin variants.
  • These patients exhibit a unique phenotype requiring tailored, gene-specific management strategies.
  • Further research is essential to refine treatment, counseling, and risk stratification for desmoplakin cardiomyopathy.
Abstract

Keywords:
arrhythmogenic cardiomyopathydesmoplakingeneticmyocarditis

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