Related Experiment Video

Updated: Jun 24, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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LV-predominant arrhythmogenic cardiomyopathy related to pathogenic DSP-variant

Soban Ahmad1, Husam El Sharu1, Robin Fernandes2

  • 1Department of Internal Medicine East Carolina University Greenville North Carolina USA.

Clinical Case Reports
|June 3, 2024
PubMed

Insights

Arrhythmogenic cardiomyopathy can affect only the left ventricle due to desmoplakin gene mutations, challenging previous assumptions. This condition, even without skin issues, carries a high risk of sudden cardiac death.

Area of Science:

  • Cardiology
  • Genetics

Background:

  • Arrhythmogenic cardiomyopathy (ACM) is a myocardial disease typically affecting the right ventricle.
  • Left ventricle (LV)-predominant ACM is less common but recognized.

Observation:

  • A 43-year-old male presented with syncope and dyspnea, exhibiting frequent ventricular arrhythmias.
  • He had a family history of sudden cardiac death and a novel desmoplakin (DSP) gene mutation (p.Q1830).
  • Cardiac imaging confirmed LV dysfunction and late gadolinium enhancement, indicative of LV-predominant ACM.

Findings:

  • The patient was diagnosed with LV-predominant ACM caused by a DSP gene mutation.
  • Guideline-directed medical therapy and an implantable cardioverter-defibrillator were initiated for primary prevention.
  • Significant improvement in heart failure symptoms was noted at 2-year follow-up.

Implications:

  • This case demonstrates that ACM can be exclusively left-ventricular, associated with autosomal dominant DSP mutations, and occur without skin manifestations.
  • Early diagnosis via multimodality imaging and genetic testing is crucial for managing this rare form of ACM.
  • Prompt management, including device implantation, is vital for preventing sudden cardiac death in affected individuals.

Keywords:
arrhythmiacardiac magnetic resonance imaging (CMR)cardiomyopathygenetics

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