Brugada syndrome with a novel missense mutation in SCN5A gene: a case report from Bangladesh

Indian Heart J. 2014 Jan-Feb;66(1):104-7. doi: 10.1016/j.ihj.2013.12.003. Epub 2013 Dec 26.

Abstract

Brugada syndrome is an inherited cardiac arrhythmia that follows autosomal dominant transmission and can cause sudden death. We report a case of Brugada syndrome in a 55-year-old male patient presented with recurrent palpitation, atypical chest pain and presyncope. ECG changes were consistent with type 1 Brugada. Gene analysis revealed a novel missense mutation in SCN5A gene with a genetic variation of D785N and a nucleotide change at 2353G-A. One of his children also had the same mutation. To our knowledge this is the first genetically proved case of Brugada syndrome in Bangladesh.

Keywords: Bangladesh; Brugada syndrome; Novel missense mutation; SCN5A gene.

Publication types

  • Case Reports

MeSH terms

  • Bangladesh
  • Brugada Syndrome / diagnosis*
  • Brugada Syndrome / genetics*
  • Brugada Syndrome / therapy
  • Defibrillators, Implantable
  • Electrocardiography / methods
  • Genetic Predisposition to Disease*
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense / genetics*
  • NAV1.5 Voltage-Gated Sodium Channel / genetics*
  • Pedigree
  • Severity of Illness Index
  • Treatment Refusal

Substances

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