Brugada syndrome genetics is associated with phenotype severity.

European Heart Journal
Giuseppe CiconteCarlo Pappone

Abstract

Brugada syndrome (BrS) is associated with an increased risk of sudden cardiac death due to ventricular tachycardia/fibrillation (VT/VF) in young, otherwise healthy individuals. Despite SCN5A being the most commonly known mutated gene to date, the genotype-phenotype relationship is poorly understood and remains uncertain. This study aimed to elucidate the genotype-phenotype correlation in BrS. Brugada syndrome probands deemed at high risk of future arrhythmic events underwent genetic testing and phenotype characterization by the means of epicardial arrhythmogenic substrate (AS) mapping, and were divided into two groups according to the presence or absence of SCN5A mutation. Two-hundred probands (160 males, 80%; mean age 42.6 ± 12.2 years) were included in this study. Patients harbouring SCN5A mutations exhibited a spontaneous type 1 pattern and experienced aborted cardiac arrest or spontaneous VT/VF more frequently than the other subjects. SCN5A-positive patients exhibited a larger epicardial AS area, more prolonged electrograms and more frequently observed non-invasive late potentials. The presence of an SCN5A mutation explained >26% of the variation in the epicardial AS area and was the strongest predictor of a large epicardia...Continue Reading

References

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Citations

Jan 4, 2021·European Heart Journal·Harry J G M CrijnsJosep Brugada
Jan 15, 2021·European Heart Journal·Pieter G PostemaConnie R Bezzina
Feb 18, 2021·European Heart Journal·Carlo PapponeMichelle M Monasky
Mar 15, 2021·European Heart Journal·Filippo Crea
May 11, 2021·Frontiers in Cardiovascular Medicine·Michelle M MonaskyCarlo Pappone
May 18, 2021·Frontiers in Pharmacology·Emanuele MicaglioCarlo Pappone
May 22, 2021·Journal of the American College of Cardiology·John R GiudicessiJason C Kovacic
Jul 3, 2021·International Journal of Molecular Sciences·Cristina BallaPaola Imbrici
Aug 2, 2021·European Heart Journal·Filippo Crea
Oct 26, 2021·Circulation. Arrhythmia and Electrophysiology·Carlo PapponeMassimo Lombardi

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