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

Sayeed, Md. Zahidus; Salam, Abdus; Haque, Md. Zahirul; Islam, Anwar

doi:10.1016/j.ihj.2013.12.003

Cited by 3 publications

(1 citation statement)

References 11 publications

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“…3 Medline search reveals only one case report published so far which is a male patient with genetic testing published in 2014. 4 Our patient is a woman from Bangladesh whose genetic testing was done in USA. Furthermore, we report a very rare genetic association between Brugada and autism in her daughter.…”

Section: Brugada Syndrome In a Female Patient Frommentioning

confidence: 99%

Brugada Syndrome in a Female Patient from Bangladesh: A Rare Occurrence

Roychoudhury

Koruth

2022

Cardiovasc. j.

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Brugada syndrome is inherited in an autosomal dominant pattern which is associated with ventricular fibrillation and sudden cardiac death in a patient with structurally normal heart. The diagnosis is clinched on characteristic EKG pattern of >2 mm ST segment elevation followed by negative T wave in right precordial leads V1,2 either occurring spontaneously or with pharmacological provocation with a sodium channel blocker. Prevalence of this disease varies by geographic location and sex with highest preponderance in South East Asian countries and in males. Among South-East Asian countries, there has been only one case report so far from Bangladesh and that too in a male patient. We present a case of female patient from Bangladesh with Brugada syndrome. We also report an association of Autism with Brugada syndrome in patient’s only female child. Cardiovasc j 2022; 15(1): 86-87

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Section: Brugada Syndrome In a Female Patient Frommentioning

confidence: 99%

Brugada Syndrome in a Female Patient from Bangladesh: A Rare Occurrence

Roychoudhury

Koruth

2022

Cardiovasc. j.

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Feasibility of analysis of the SCN5A gene in paraffin embedded samples in sudden infant death cases at the Pretoria Medico-Legal Laboratory, South Africa

Deventer

Toit-Prinsloo

Niekerk

2018

Forensic Sci Med Pathol

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To determine variations in the SCN5A gene linked to inherited cardiac arrhythmogenic disorders in sudden, unexplained infant death (SUID) cases examined at the Pretoria Medico-Legal Laboratory, South Africa. A retrospective study was conducted on SUID cases and controls, analyzing DNA extracted from archived formalin-fixed, paraffin-embedded (FFPE) myocardial tissue samples as well as blood samples. A total of 48 FFPE tissue samples (cases), 10 control FFPE tissue samples and nine control blood samples were included. DNA extracted from all samples was used to test for variations in the SCN5A gene by using high resolution melt (HRM) real-time PCR and sequencing. Genetic analysis showed 31 different single nucleotide variants in the entire study population (n = 67). Five previously reported variants of known pathogenic significance, and 14 variants of benign clinical significance, were identified. The study found 12 different variants in the cases that were not published in any database or literature and were considered novel. Of these novel variants, two were predicted as "probably damaging" with a high level of certainty (found in four case samples), one (identified in another case sample) was predicted to be "possibly damaging" with a 50% chance of being disease-causing, and nine were predicted to be benign. This study shows the significant added value of using genetic testing in determining the cause of death in South African SUID cases. Considering the high heritability of these arrhythmic disorders, post mortem genetic testing could play an important role in the understanding of the pathogenesis thereof and could also aid in the diagnosis and treatment of family members at risk, ultimately preventing similar future cases.

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Genetic and clinical aspects of brugada syndrome

Banu

Najnin

2015

Acta Med Int

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

Cited by 3 publications

References 11 publications

Brugada Syndrome in a Female Patient from Bangladesh: A Rare Occurrence

Brugada Syndrome in a Female Patient from Bangladesh: A Rare Occurrence

Feasibility of analysis of the SCN5A gene in paraffin embedded samples in sudden infant death cases at the Pretoria Medico-Legal Laboratory, South Africa

Genetic and clinical aspects of brugada syndrome

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