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Clinical characteristics and risk stratification of desmoplakin cardiomyopathy

Weijia Wang1,2, Brittney Murray1, Crystal Tichnell1

  • 1Division of Cardiology, Department of Medicine, Johns Hopkins University, Johns Hopkins Hospital, Blalock 545, 600 North Wolfe Street, Baltimore, MD 21287, USA.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology
|August 5, 2021
PubMed

Insights

Desmoplakin (DSP) cardiomyopathy impacts both heart ventricles, posing a high risk for ventricular arrhythmias and heart failure. Myocardial injury is linked to poorer outcomes, highlighting the need for improved diagnosis and risk assessment in DSP cardiomyopathy.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Desmoplakin (DSP) cardiomyopathy is an emerging cause of arrhythmogenic cardiomyopathy.
  • Genetic variants in DSP are increasingly recognized as a cause of inherited heart disease.

Purpose of the Study:

  • To characterize the diagnosis, natural history, and risk of ventricular arrhythmia and heart failure in DSP cardiomyopathy using a genotype-specific approach.
  • To evaluate the prognostic value of clinical factors and diagnostic criteria in DSP cardiomyopathy.

Main Methods:

  • Followed 91 individuals with pathogenic DSP variants for a median of 4.3 years.
  • Assessed ventricular involvement (left, right, or biventricular predominance).
  • Analyzed incidence rates of sustained ventricular arrhythmia and heart failure, and their association with clinical factors like myocardial injury and ventricular dysfunction.

Main Results:

  • Left ventricular predominance was most common (28%).
  • Myocardial injury occurred in 22% and was associated with increased risk of ventricular arrhythmia and heart failure.
  • Low left ventricular ejection fraction (<35%) and right ventricular dysfunction predicted ventricular arrhythmia, while proband status and myocardial injury predicted heart failure.
  • The arrhythmogenic right ventricular cardiomyopathy Task Force Criteria had limited sensitivity (73%) for diagnosing left-dominant disease.

Conclusions:

  • DSP cardiomyopathy affects both ventricles and carries a significant risk of ventricular arrhythmia and heart failure.
  • Myocardial injury is associated with worse disease outcomes in DSP cardiomyopathy.
  • Current diagnostic and risk stratification methods for DSP cardiomyopathy require refinement, particularly for left-dominant disease.
Abstract

Keywords:
Arrhythmogenic cardiomyopathyDesmoplakinHeart failureMyocardial injuryVentricular arrhythmia

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