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Brugada syndrome with a novel missense mutation in SCN5A gene: a case report from Bangladesh Sayeed MZ; Salam MA; Haque MZ; Islam AKIndian Heart J 2014[Jan]; 66 (1): 104-7Brugada 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.|*Genetic Predisposition to Disease[MESH]|Bangladesh[MESH]|Brugada Syndrome/*diagnosis/*genetics/therapy[MESH]|Defibrillators, Implantable[MESH]|Electrocardiography/methods[MESH]|Heterozygote[MESH]|Humans[MESH]|Male[MESH]|Middle Aged[MESH]|Mutation, Missense/*genetics[MESH]|NAV1.5 Voltage-Gated Sodium Channel/*genetics[MESH]|Pedigree[MESH]|Severity of Illness Index[MESH]|Treatment Refusal[MESH] |
