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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Autores principales: Sayeed, Md. Zahidus, Salam, Md. Abdus, Haque, Md. Zahirul, Islam, A.K.M. Monwarul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3946469/
https://www.ncbi.nlm.nih.gov/pubmed/24581105
http://dx.doi.org/10.1016/j.ihj.2013.12.003
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author Sayeed, Md. Zahidus
Salam, Md. Abdus
Haque, Md. Zahirul
Islam, A.K.M. Monwarul
author_facet Sayeed, Md. Zahidus
Salam, Md. Abdus
Haque, Md. Zahirul
Islam, A.K.M. Monwarul
author_sort Sayeed, Md. Zahidus
collection PubMed
description 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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spelling pubmed-39464692014-03-25 Brugada syndrome with a novel missense mutation in SCN5A gene: A case report from Bangladesh Sayeed, Md. Zahidus Salam, Md. Abdus Haque, Md. Zahirul Islam, A.K.M. Monwarul Indian Heart J Case Report 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. Elsevier 2014 2013-12-26 /pmc/articles/PMC3946469/ /pubmed/24581105 http://dx.doi.org/10.1016/j.ihj.2013.12.003 Text en Copyright © 2013, Cardiological Society of India. All rights reserved. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Sayeed, Md. Zahidus
Salam, Md. Abdus
Haque, Md. Zahirul
Islam, A.K.M. Monwarul
Brugada syndrome with a novel missense mutation in SCN5A gene: A case report from Bangladesh
title Brugada syndrome with a novel missense mutation in SCN5A gene: A case report from Bangladesh
title_full Brugada syndrome with a novel missense mutation in SCN5A gene: A case report from Bangladesh
title_fullStr Brugada syndrome with a novel missense mutation in SCN5A gene: A case report from Bangladesh
title_full_unstemmed Brugada syndrome with a novel missense mutation in SCN5A gene: A case report from Bangladesh
title_short Brugada syndrome with a novel missense mutation in SCN5A gene: A case report from Bangladesh
title_sort brugada syndrome with a novel missense mutation in scn5a gene: a case report from bangladesh
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3946469/
https://www.ncbi.nlm.nih.gov/pubmed/24581105
http://dx.doi.org/10.1016/j.ihj.2013.12.003
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