This report identifies a novel missense mutation in the SCN5A gene (D785N) in the first genetically proven case of Brugada syndrome in Bangladesh.
May prompt SCN5A testing in South Asian Brugada cases; leaves open variant pathogenicity and population prevalence.
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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Sayeed et al. (2014) studied this question.
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