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Brugada syndrome: from genetic diagnostics to personalized therapy
https://doi.org/10.25557/2073-7998.2025.01.13-22
Abstract
Brugada syndrome (BrS) is an inherited cardiac disorder characterized by specific electrocardiogram (ECG) abnormalities and a high risk of ventricular arrhythmias and sudden cardiac death. BrS is more common in young men and its clinical manifestations range from asymptomatic cases to sudden cardiac death. Epidemiological data show significant regional and ethnic variation in the prevalence of BrS, with the highest incidence in Southeast Asia. Investigation of the genetic factors of BrS is critical to understanding the pathogenesis, developing diagnostic and prognostic methods, and targeted therapeutic approaches. The major genes associated with BrS include SCN5A, CACNA1C, CACNB2, SCN1B and SCN3B. These genes encode ion channels, and their pathogenic variants can lead to significant electrophysiological disturbances, resulting in arrhythmias and sudden cardiac death. Modern genetic testing methods, such as next-generation sequencing (ngs), play a key role in identifying genetic mutations associated with brs. These technologies allow for improved diagnostics and risk prediction, as well as the development of individualized treatment plans based on the patient’s genetic profile, improving the prognosis and quality of life of patients with this disease.
About the Authors
A. V. Iarmukhametova
Bashkir State Medical University
Russian Federation
Russian Federation
Adeliia V. Iarmukhametova
3, Lenina st., Ufa, 450008
A. S. Sergeev
Almazov National Medical Research Center
Russian Federation
Russian Federation
2, Akkuratova st., St. Petersburg, 197341
A. P. Filatov
Almazov National Medical Research Center
Russian Federation
Russian Federation
2, Akkuratova st., St. Petersburg, 197341
E. R. Shmatkova
Almazov National Medical Research Center
Russian Federation
Russian Federation
2, Akkuratova st., St. Petersburg, 197341
K. Iu. Kopytova
Bashkir State Medical University
Russian Federation
Russian Federation
3, Lenina st., Ufa, 450008
A. A. Akhiyarova
Bashkir State Medical University
Russian Federation
Russian Federation
3, Lenina st., Ufa, 450008
A. F. Davletshin
Bashkir State Medical University
Russian Federation
Russian Federation
3, Lenina st., Ufa, 450008
K. A. Salakhova
Bashkir State Medical University
Russian Federation
Russian Federation
3, Lenina st., Ufa, 450008
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For citations:
Iarmukhametova A.V., Sergeev A.S., Filatov A.P., Shmatkova E.R., Kopytova K.I., Akhiyarova A.A., Davletshin A.F., Salakhova K.A. Brugada syndrome: from genetic diagnostics to personalized therapy. Medical Genetics. 2025;24(1):13-22. (In Russ.) https://doi.org/10.25557/2073-7998.2025.01.13-22
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