The S1103Y cardiac sodium channel variant is associated with implantable cardioverter-defibrillator events in blacks with heart failure and reduced ejection fraction

Circ Cardiovasc Genet. 2011 Apr;4(2):163-8. doi: 10.1161/CIRCGENETICS.110.958652. Epub 2011 Apr 15.

Abstract

Background: Risk-stratifying heart failure patients for primary prevention implantable cardioverter-defibrillators (ICDs) remains a challenge, especially for blacks, who have an increased incidence of sudden cardiac death but have been underrepresented in clinical trials. We hypothesized that the S1103Y cardiac sodium channel SCN5A variant influences the propensity for ventricular arrhythmias in black patients with heart failure and reduced ejection fraction.

Methods and results: Blacks (n=112) with ejection fractions <35% receiving primary prevention ICDs were identified from the Duke Electrophysiology Genetic and Genomic Studies (EPGEN) biorepository and followed for appropriate ICD therapy (either anti tachycardia pacing or shock) for documented sustained ventricular tachycardia or fibrillation. The S1103Y variant was overrepresented in patients receiving appropriate ICD therapy compared with subjects who did not (35% versus 13%, P=0.03). Controlling for baseline characteristics, the adjusted hazard ratio using a Cox proportional hazard model for ICD therapy in Y1103 allele carriers was 4.33 (95% confidence interval, 1.60 to 11.73, P=<0.01). There was no difference in mortality between carriers and noncarriers.

Conclusions: This is the first report that the S1103Y variant is associated with a higher incidence of ventricular arrhythmias in blacks with heart failure and reduced ejection fraction.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alleles
  • Amino Acid Substitution
  • Arrhythmias, Cardiac / genetics*
  • Arrhythmias, Cardiac / mortality
  • Arrhythmias, Cardiac / therapy*
  • Black or African American
  • Death, Sudden, Cardiac / ethnology
  • Death, Sudden, Cardiac / prevention & control
  • Defibrillators, Implantable*
  • Disease-Free Survival
  • Female
  • Follow-Up Studies
  • Heart Failure / ethnology
  • Heart Failure / genetics
  • Heart Failure / therapy*
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • NAV1.5 Voltage-Gated Sodium Channel
  • Sodium Channels / genetics*
  • Sodium Channels / metabolism
  • Stroke Volume / physiology*

Substances

  • NAV1.5 Voltage-Gated Sodium Channel
  • SCN5A protein, human
  • Sodium Channels