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PubMed 24581105


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Title: Brugada syndrome with a novel missense mutation in SCN5A gene: a case report from Bangladesh.

Authors: Md Zahidus Sayeed, Md Abdus Salam, Md Zahirul Haque, A K M Monwarul Islam

Journal, date & volume: Indian Heart J, 2014 Jan-Feb , 66, 104-7

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/24581105


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.