Brugada syndrome with a novel missense mutation in SCN5A gene: a case report from Bangladesh
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 t...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | en |
| Published: |
Elsevier
2014
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| Subjects: | |
| Online Access: | http://irep.iium.edu.my/87010/1/Brugada%20IHJ.pdf http://irep.iium.edu.my/87010/ http://doi.org/10.1016/j.ihj.2013.12.003 |
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| Summary: | 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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