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Genetic architecture of long QT syndrome and genotype-specific treatment
https://doi.org/10.33667/2078-5631-2025-4-7-14
Abstract
Congenital long QT syndrome (LQTS) is the first described and most common inherited arrhythmia in the absence of structural heart disease, which is inherited in a predominantly autosomal dominant manner, characterized by an increased risk of developing polymorphic ventricular tachycardia, syncope and/or seizures, and sudden cardiac death. According to modern ideas about the spectrum of genetic variants that can contribute to the genetic architecture of LQTS, this disease cannot be considered as a monogenic pathology. This is supported by the presence not only of pathogenic or likely pathogenic variants in the canonical LQTS susceptibility genes, but also of common potentially proarrhythmic variants or functional risk alleles and poorly penetrating rare variants. Since LQTS is a genetically and phenotypically heterogeneous disease, timely verification of the diagnosis of LQTS and risk stratification of arrhythmic events, as well as the implementation of a genotype-specific therapeutic strategy, seem relevant.
About the Authors
B. G. Iskenderov
Penza Institute for Further Training of Physicians – Branch Campus of the Federal State Budgetary Educational Institution of Further Professional Education «Russian Medical Academy of Continuous Professional Education» of the Ministry of Healthcare of the Russian Federation
Russian Federation
Russian Federation
Iskenderov Bakhram G. - MD, professor, head of the Department of Therapy, Cardiology, Functional Diagnostics and Rheumatology.
Penza
E. A. Molokova
Penza Institute for Further Training of Physicians – Branch Campus of the Federal State Budgetary Educational Institution of Further Professional Education «Russian Medical Academy of Continuous Professional Education» of the Ministry of Healthcare of the Russian Federation
Russian Federation
Russian Federation
Molokova Elena A. - PhD in Medical Sciences, associate professor of the Department of therapy, cardiology, functional diagnostics, and rheumatology.
Penza
I. N. Mozhzhukhina
Penza Institute for Further Training of Physicians – Branch Campus of the Federal State Budgetary Educational Institution of Further Professional Education «Russian Medical Academy of Continuous Professional Education» of the Ministry of Healthcare of the Russian Federation
Russian Federation
Russian Federation
Mozhzhukhina Irina N. - PhD in Medical Sciences, head of the Department of roentgenology.
Penza
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For citations:
Iskenderov B.G., Molokova E.A., Mozhzhukhina I.N. Genetic architecture of long QT syndrome and genotype-specific treatment. Medical alphabet. 2025;(4):7-14. (In Russ.) https://doi.org/10.33667/2078-5631-2025-4-7-14
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