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A novel familial pathogenic desmoplakin (DSP) gene mutation (c.4751_4752del) presenting as "hot-phase" left-dominant

Victoria Fanucci1, Dhaval Chauhan2, Nita Ray Chaudhuri3

  • 1West Virginia University School of Medicine, Morgantown, WV, USA.

Future Cardiology
|May 5, 2025
PubMed

Insights

A novel desmoplakin (DSP) mutation caused a rare myocarditis-like presentation of left-dominant arrhythmogenic cardiomyopathy in a teen. This highlights the need to consider arrhythmogenic cardiomyopathy in myocarditis differential diagnoses to prevent sudden cardiac death.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Desmoplakin (DSP) is crucial for desmosome structure and function.
  • DSP mutations are linked to arrhythmogenic cardiomyopathy (ACM) and skin disorders.
  • Left-dominant arrhythmogenic cardiomyopathy (LDACM) is a form of ACM affecting the left ventricle.

Purpose of the Study:

  • To report a rare case of LDACM presenting as myocarditis.
  • To describe a novel familial DSP mutation (c.4751_4752del) in a patient with LDACM.
  • To emphasize the importance of considering ACM in the differential diagnosis of myocarditis.

Main Methods:

  • Case report of a 16-year-old female patient.
  • Genetic analysis to identify DSP mutation.
  • Clinical evaluation including electrocardiography and electrophysiological studies.
  • Management of ventricular tachycardia and sudden cardiac death risk assessment.

Main Results:

  • A novel familial frame-shift DSP mutation (c.4751_4752del) was identified.
  • The patient presented with a myocarditis-like syndrome and sustained ventricular tachycardia.
  • A dual-chamber transvenous defibrillator was implanted due to a 25% 5-year risk of adverse outcomes.
  • Ventricular tachycardia was successfully managed with amiodarone.

Conclusions:

  • DSP mutations can lead to rare, myocarditis-like presentations of LDACM.
  • Early diagnosis and management of ACM are essential to prevent heart failure, ventricular arrhythmia, and sudden cardiac death.
  • ACM should be included in the differential diagnosis for patients presenting with myocarditis.
Keywords:
DSP frame-shift mutationimplantable cardioverter defibrillatorleft-dominant arrhythmogenic cardiomyopathyventricular tachycardia“hot phase” myocarditis like presentation

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