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

Sayeed, Md. Zahidus and Salam, Md. Abdus and Haque, Md. Zahirul and Islam, A.K.M. Monwarul (2014) Brugada syndrome with a novel missense mutation in SCN5A gene: a case report from Bangladesh. Indian Heart Journal, 66 (1). pp. 104-107. ISSN 00194832

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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.

Item Type:	Article (Case Report)
Additional Information:	9217/87010
Uncontrolled Keywords:	Brugada syndrome SCN5A gene Novel missense mutation Bangladesh
Subjects:	R Medicine > RC Internal medicine > RC667 Specialties of Internal Medicine-Diseases of Circulatory (Cardiovascular) System
Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button):	Kulliyyah of Medicine > Department of Basic Medical Kulliyyah of Medicine
Depositing User:	Prof. Dr. Md. Abdus Salam
Date Deposited:	28 Dec 2020 13:05
Last Modified:	28 Dec 2020 13:05
URI:	http://irep.iium.edu.my/id/eprint/87010

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