title: Brugada syndrome with a novel missense mutation in SCN5A gene: a case report from Bangladesh.
abstract: 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.
authors.affiliation: Assistant Professor, Department of Cardiology, Rajshahi Medical College, Rajshahi 6000, Bangladesh. Electronic address: zahidus.sayeed@yahoo.com.
authors.forename: Md Zahidus
authors.initials: MZ
authors.lastname: Sayeed
authors.affiliation: Associate Professor, Department of Microbiology, Rajshahi Medical College, Rajshahi 6000, Bangladesh.
authors.forename: Md Abdus
authors.initials: MA
authors.lastname: Salam
authors.affiliation: Assistant Professor, Department of Medicine, Rajshahi Medical College, Rajshahi 6000, Bangladesh.
authors.forename: Md Zahirul
authors.initials: MZ
authors.lastname: Haque
authors.affiliation: Registrar, Department of Cardiology, National Institute of Cardiovascular Diseases, Dhaka 1205, Bangladesh.
authors.forename: A K M Monwarul
authors.initials: AK
authors.lastname: Islam
mesh_terms: D001459:Bangladesh; D053840:Brugada Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D017147:Defibrillators, Implantable; D004562:Electrocardiography / Q000379:methods; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D010375:Pedigree; D012720:Severity of Illness Index; D016312:Treatment Refusal
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human
keywords: Bangladesh; Brugada syndrome; Novel missense mutation; SCN5A gene