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Published: 2024-09-27
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DOI: https://doi.org/10.52852/tcncyh.v181i8.2577
Issue
Vol. 181 No. 8 (2024)
Section
Các bài báo
How to Cite
Việt, T. T., Phong, P. Đình, Linh, N. D., Kiên, L. V., Phong, Đặng V., Khánh, T. V., & Hùng, P. M. (2024). 40. Characteristics and clinical relevance of SCN5A variants in patients with Brugada syndrome. Journal of Medical Research, 181(8), 363-374. https://doi.org/10.52852/tcncyh.v181i8.2577

40. Characteristics and clinical relevance of SCN5A variants in patients with Brugada syndrome

Tran Tuan Viet, Phan Dinh Phong, Nguyen Duy Linh, Le Vo Kien, Dang Viet Phong, Tran Van Khanh, Pham Manh Hung

Main Article Content

Abstract

To describe the characteristics of SCN5A gene variants and their clinical relevance in patients with Brugada syndrome, we conducted a study on 50 patients, identifying mutations through whole exome sequencing. The pathogenicity of the variants was evaluated based on ACMG classification. The rate of patients carrying variants was 48%, with 16% carrying SCN5A gene variants, and the rate of patients carrying other minor gene variants ranged from 2 - 10%. Among the 36 variants detected in the study, SCN5A had the most variants (9 variants, 25%). Our research results indicated an association between the clinical phenotypes EP (+), aVR (+), and S wave amplitude in lead D2 with SCN5A genotypes (+). Our study showed a high rate of patients with variants in the Brugada patient population, with SCN5A variants playing a dominant role in terms of occurrence rate, pathogenicity classification, and association with clinical phenotypes. Our findings were consistent with current recommendations, suggesting that SCN5A remained the sole gene to be considered for genetic screening in patients with Brugada syndrome, including their relatives.

Article Details

Keywords

Brugada, variants, SCN5A, genetics, gene

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