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Brugada syndrome with a novel missense mutation in SCN5A gene: A case report from Bangladesh |
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| Authors: | Md. Zahidus Sayeed Md. Abdus Salam Md. Zahirul Haque A.K.M. Monwarul Islam |
| Affiliation: | aAssistant Professor, Department of Cardiology, Rajshahi Medical College, Rajshahi 6000, Bangladesh;bAssociate Professor, Department of Microbiology, Rajshahi Medical College, Rajshahi 6000, Bangladesh;cAssistant Professor, Department of Medicine, Rajshahi Medical College, Rajshahi 6000, Bangladesh;dRegistrar, Department of Cardiology, National Institute of Cardiovascular Diseases, Dhaka 1205, 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. |
| Keywords: | Brugada syndrome SCN5A gene Novel missense mutation Bangladesh |
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