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
Abstract
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Md. Zahidus Sayeed, Md. Abdus Salam, Md Zahirul Haque, A.K.M. Monwarul Islam
Abstract
Open-access reader
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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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.
Key concepts: Brugada syndrome, Missense mutation, Medicine, Sudden cardiac death, Sudden death, Presyncope, Long QT syndrome, Mutation