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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 |
Appears in Collections: | Elements Staff Publications |
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