Genetic variants associated with ventricular arrhythmias during ajmaline test in Brugada syndrome
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
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.
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
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Taxonomy
TopicsCardiac electrophysiology and arrhythmias · Ion channel regulation and function · Viral Infections and Immunology Research