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Epicardial ablation in genetic cardiomyopathies: a new frontier

Carlo Pappone1, Michelle M Monasky1, Giuseppe Ciconte1

  • 1Arrhythmology and Electrophysiology Department, IRCCS Policlinico San Donato, San Donato Milanese, Milano, Italy.

European Heart Journal Supplements : Journal of the European Society of Cardiology
|April 6, 2019
PubMed

Insights

Genetic mutations like SCN5A and MYBPC3 can cause Brugada syndrome (BrS) and cardiomyopathies, leading to sudden cardiac death (SCD). Ajmaline challenge and epicardial mapping may help identify and treat the arrhythmogenic substrate, potentially reducing treatment difficulties.

Area of Science:

  • Cardiovascular Genetics
  • Electrophysiology
  • Cardiac Arrhythmias

Background:

  • Brugada syndrome (BrS) and various cardiomyopathies share genetic underpinnings and increase the risk of sudden cardiac death (SCD) from ventricular arrhythmias.
  • Phenotypic variability exists even within families carrying the same genetic mutation, complicating diagnosis and treatment.
  • Current treatments for SCD prevention, such as implantable cardioverter-defibrillators and pharmaceuticals, present challenges for patients.

Purpose of the Study:

  • To investigate the role of specific genetic mutations (SCN5A and MYBPC3) in families presenting with overlapping phenotypes of BrS and cardiomyopathies.
  • To explore the potential of ajmaline challenge and epicardial mapping for identifying and ablating arrhythmogenic substrates in BrS and cardiomyopathy patients.

Main Methods:

  • Case reports of two families with distinct genetic mutations (SCN5A and MYBPC3) and varied clinical presentations.
  • Utilized ajmaline challenge and epicardial mapping to identify arrhythmogenic substrates.
  • Described the therapeutic approach of ablating identified arrhythmogenic substrates.

Main Results:

  • A SCN5A mutation presented with different phenotypes (left ventricular non-compaction and BrS) in a father and daughter.
  • A MYBPC3 mutation resulted in diverse phenotypes (hypertrophic cardiomyopathy and BrS) across a father, daughter, and son.
  • Ajmaline challenge and epicardial mapping successfully identified arrhythmogenic substrates, guiding ablation therapy.

Conclusions:

  • SCN5A and MYBPC3 mutations are implicated in the overlap between BrS and cardiomyopathies, highlighting shared genetic pathways with divergent phenotypes.
  • Ajmaline-guided epicardial mapping and ablation offer a promising therapeutic strategy to prevent ventricular arrhythmias and reduce reliance on conventional treatments.
  • Further research and extended follow-up are necessary to fully ascertain the long-term efficacy of this interventional approach.

Keywords:
Brugada syndromeCatheter ablationImplantable cardioverter-defibrillatorMappingSudden cardiac death

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