Mutational Spectrum of the SCN5A gene in Brugada Syndrome Patients

Background: Despite the distinct pathophysiology, several reports suggested overlapping phenotypes between arrhythmogenic right ventricular cardiomyopathy (ARVC) and Brugada syndrome (BrS). Objective: The purpose of this study was to investigate the prevalence and significance of BrS pattern on elec...

Full description

Saved in:
Bibliographic Details
Published in:Journal of electrocardiology 2018-11, Vol.51 (6), p.1166-1166
Main Authors: Shestak, Anna, Saber, Siamak, Makarov, Leonid, Zaklyazminskaya, Elena
Format: Article
Language:English
Subjects:
Cardiomyopathy
Ejection fraction
Electrocardiography
Genes
Genotype & phenotype
Mutation
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Background: Despite the distinct pathophysiology, several reports suggested overlapping phenotypes between arrhythmogenic right ventricular cardiomyopathy (ARVC) and Brugada syndrome (BrS). Objective: The purpose of this study was to investigate the prevalence and significance of BrS pattern on electrocardiogram (ECG) in patients with ARVC. Methods: One hundred and thirteen ARVC patients fulfilling the revised Task Force criteria were enrolled. Type-1 and type-2 BrS pattern were evaluated according to the consensus report with ST-segment eleva-tion>0.2 mV on the right precordial leads (VI-V3). The ST-segment amplitude was analyzed at the J point determined in lead V5 or V6, and total of 1113 ECGs (10.0±13.4 ECGs per patient) were analyzed. Results: Eighteen patients had BrS pattern (17%; 12 with type-1, 6 with type-2). The mean ST-segment amplitude of BrS pattern was 0.24±0.02 mV, which was significantly lower than that in age-matched 26 BrS patients with previous VF episode (0.30±0.05 mV, p
ISSN:0022-0736
1532-8430
DOI:10.1016/j.jelectrocard.2018.10.019