Indian Heart Journal (Jan 2014)

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

  • Md. Zahidus Sayeed,
  • Md. Abdus Salam,
  • Md. Zahirul Haque,
  • A.K.M. Monwarul Islam

DOI
https://doi.org/10.1016/j.ihj.2013.12.003
Journal volume & issue
Vol. 66, no. 1
pp. 104 – 107

Abstract

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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.

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