# Genetic variants associated with ventricular arrhythmias during ajmaline test in Brugada syndrome

**Authors:** Charles Audiat, Luigi Pannone, Antonio Sorgente, Pasquale Vergara, Domenico Giovanni Della Rocca, Ivan Eltsov, Gudrun Pappaert, Ingrid Overeinder, Gezim Bala, Alexandre Almorad, Erwin Ströker, Mark La Meir, Ali Gharaviri, Elke De Schutter, Jelle Vlaeminck, Christine Helsen, Sophie Uyttebroeck, Sonia Van Dooren, Laura Pölsler, Philippe Giron, Pedro Brugada, Andrea Sarkozy, Gian Battista Chierchia, Juan Sieira, Carlo de Asmundis

PMC · DOI: 10.1093/europace/euaf162 · 2025-08-05

## TL;DR

This study identifies harmful genetic variants in SCN5A linked to dangerous heart rhythms during a drug test in Brugada syndrome patients.

## Contribution

The novelty lies in linking specific SCN5A pathogenic variants to ventricular fibrillation during ajmaline testing in Brugada syndrome.

## Key findings

- Pathogenic variants in SCN5A are associated with ventricular fibrillation during ajmaline testing.
- Findings follow ACMG guidelines for variant classification.

## Abstract

Graphical AbstractPathogenic/Likely Pathogenic variants identified in SCN5A and associated with ajmaline-induced ventricular fibrillation following ACMG guidelines

Pathogenic/Likely Pathogenic variants identified in SCN5A and associated with ajmaline-induced ventricular fibrillation following ACMG guidelines

## Linked entities

- **Genes:** SCN5A (sodium voltage-gated channel alpha subunit 5) [NCBI Gene 6331]
- **Chemicals:** ajmaline (PubChem CID 441080)
- **Diseases:** Brugada syndrome (MONDO:0015263), ventricular fibrillation (MONDO:0000190)

## Full-text entities

- **Diseases:** ventricular arrhythmias (MESH:D001145), Brugada syndrome (MESH:D053840)
- **Chemicals:** ajmaline (MESH:D000404)

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12526112/full.md

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Source: https://tomesphere.com/paper/PMC12526112