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

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 t...

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Detalles Bibliográficos
Autores principales: Sayeed, Md. Zahidus, Salam, Md. Abdus, Haque, Md. Zahirul, Islam, A.K.M. Monwarul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3946469/
https://www.ncbi.nlm.nih.gov/pubmed/24581105
http://dx.doi.org/10.1016/j.ihj.2013.12.003
Descripción
Sumario: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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