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Novel SCN5A variant associated with flecainide-responsive multifocal ventricular arrhythmia and recovered

Elżbieta Katarzyna Biernacka1, Joanna Ponińska2, Krzysztof Smarż3

  • 1Outpatient Department of Congenital Heart Diseases and Genetic Arrhythmias, Dept. of Congenital Heart Diseases, Cardinal Wyszyński National Institute of Cardiology, Alpejska 42, Warsaw, 04-628, Poland. k.biernacka@ikard.pl.

Journal of Applied Genetics
|May 5, 2026
PubMed

Insights

Multifocal Ectopic Purkinje-related Premature Contractions (MEPPC), a rare SCN5A genetic disorder, presents diagnostic challenges. Flecainide effectively treated a patient with severe arrhythmias and heart dysfunction, highlighting targeted therapy benefits.

Area of Science:

  • Cardiology
  • Genetics
  • Electrophysiology

Background:

  • Multifocal Ectopic Purkinje-related Premature Contractions (MEPPC) is a rare genetic arrhythmogenic syndrome.
  • It is caused by gain-of-function mutations in the SCN5A gene.
  • MEPPC leads to frequent premature ventricular contractions and cardiomyopathy risk.

Purpose of the Study:

  • To highlight diagnostic and therapeutic challenges in unrecognized MEPPC.
  • To present a case of a young woman with symptomatic arrhythmias and left ventricular dysfunction.
  • To demonstrate the efficacy of flecainide in treating MEPPC.

Main Methods:

  • Case report of a 27-year-old woman with refractory arrhythmias.
  • Conventional therapy and ablation were ineffective.
  • Genetic testing for SCN5A variants and flecainide initiation.

Main Results:

  • Flecainide resulted in immediate arrhythmia suppression.
  • Full recovery of cardiac function was observed.
  • Genetic testing identified a novel likely pathogenic SCN5A variant (p.Val215Ala) and a loss-of-function variant (p.Phe1570Cys).

Conclusions:

  • Early recognition of MEPPC based on arrhythmic patterns is crucial.
  • Targeted genetic testing is vital for optimizing treatment strategies.
  • Flecainide can be an effective treatment for MEPPC.
Keywords:
SCN5AArrhythmiaCardiomyopathyPurkinje fibers

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