Please use this identifier to cite or link to this item: https://doi.org/10.1161/JAHA.116.005009
Title: SCN5A genetic polymorphisms associated with increased defibrillator shocks in Brugada syndrome
Authors: Makarawate, P
Chaosuwannakit, N
Vannaprasaht, S
Sahasthas, D
Koo, S.H 
Lee, E.J.D 
Tassaneeyakul, W
Barajas-Martinez, H
Hu, D
Sawanyawisuth, K
Keywords: Article
Brugada syndrome
clinical article
exon
gene
gene frequency
gene mutation
genetic polymorphism
genetic variability
genotype
heart muscle conduction disturbance
heart ventricle fibrillation
heart ventricle tachycardia
human
implantable cardioverter defibrillator
male
PR interval
priority journal
QRS interval
SCN5A gene
single nucleotide polymorphism
adult
Brugada syndrome
cardioversion
devices
electrocardiography
female
genetic association study
genetic predisposition
genetics
heart muscle conduction system
implantable cardioverter defibrillator
Kaplan Meier method
middle aged
pathophysiology
phenotype
Thailand
time factor
treatment outcome
university hospital
young adult
SCN5A protein, human
sodium channel Nav1.5
Adult
Brugada Syndrome
Defibrillators, Implantable
Electric Countershock
Electrocardiography
Female
Genetic Association Studies
Genetic Predisposition to Disease
Heart Conduction System
Hospitals, University
Humans
Kaplan-Meier Estimate
Male
Middle Aged
NAV1.5 Voltage-Gated Sodium Channel
Phenotype
Polymorphism, Genetic
Thailand
Time Factors
Treatment Outcome
Young Adult
Issue Date: 2017
Citation: Makarawate, P, Chaosuwannakit, N, Vannaprasaht, S, Sahasthas, D, Koo, S.H, Lee, E.J.D, Tassaneeyakul, W, Barajas-Martinez, H, Hu, D, Sawanyawisuth, K (2017). SCN5A genetic polymorphisms associated with increased defibrillator shocks in Brugada syndrome. Journal of the American Heart Association 6 (6) : e005009. ScholarBank@NUS Repository. https://doi.org/10.1161/JAHA.116.005009
Rights: Attribution 4.0 International
Abstract: Background--Brugada syndrome (BrS) is an inherited primary arrhythmia disorder leading to sudden cardiac arrest. SCN5A, encoding the a-subunit of the cardiac sodium channel (Nav1.5), is the most common pathogenic gene of BrS. An implantable cardioverter defibrillator (ICD) is the standard treatment for secondary prevention. This study aimed to evaluate association of the SCN5A variant with this cardiac conduction disturbance and appropriate ICD shock therapy in Thai symptomatic BrS patients with ICD implants. Methods and Results--Symptomatic BrS patients diagnosed at university hospital were enrolled from 2008 to 2011. The primary outcome of the study was an appropriate ICD shock defined as having non-pacing-associated ICD shock after the occurrence of ventricular tachycardia or ventricular fibrillation. Associations between SCN5A polymorphisms, cardiac conduction disturbance, and potential confounding factors associated with appropriate ICD shock therapy were analyzed. All 40 symptomatic BrS patients (median age, 43 years) with ICD implantations were followed for 24 months. There were 16 patients (40%) who had the appropriate ICD shock therapy after ICD treatment. An independent factor associated with appropriate ICD shock therapy was SCN5A-R1193Q with an adjusted hazard ratio of 10.550 (95% CI, 1.631-68.232). Conclusions--SCN5A-R1193Q is associated with cardiac conduction disturbances. It may be a genetic marker associated with ventricular arrhythmia leading to appropriate ICD shock therapy in symptomatic BrS patients with ICD treatment. Because of the small sample size of study population and the appropriate ICD shock outcome, further large studies are needed to confirm the results of this study. © 2017 The Authors.
Source Title: Journal of the American Heart Association
URI: https://scholarbank.nus.edu.sg/handle/10635/178673
ISSN: 20479980
DOI: 10.1161/JAHA.116.005009
Rights: Attribution 4.0 International
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