Molecular genetic markers of QT interval duration and sudden cardiac death: literature review
The study of sudden cardiac death (SCD) and its etiopathogenesis in cardiology practice remains one of the most pressing public health problems. In Western countries, SCD accounts for 20% of the total mortality and 50% of mortality associated with cardiovascular diseases. Considering the electrical...
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Siberian State Medical University (Tomsk)
2022-04-01
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| Series: | Бюллетень сибирской медицины |
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| Online Access: | https://bulletin.ssmu.ru/jour/article/view/4709 |
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| author | A. M. Nesterets V. N. Maksimov |
| author_facet | A. M. Nesterets V. N. Maksimov |
| author_sort | A. M. Nesterets |
| collection | DOAJ |
| description | The study of sudden cardiac death (SCD) and its etiopathogenesis in cardiology practice remains one of the most pressing public health problems. In Western countries, SCD accounts for 20% of the total mortality and 50% of mortality associated with cardiovascular diseases. Considering the electrical instability in the myocardium as one of the main reasons for the development of life-threatening arrhythmias (ventricular tachycardia / ventricular fibrillation) and SCD, one should be aware of such provoking factors as ischemic heart disease, myocarditis, valvular heart disease, pharmacological influences, cardiomyopathy, and channelopathy. An increase or decrease in the duration of the QT interval, which reflects the work of ion channels, as well as ventricular depolarization and repolarization, increases the risk of SCD.The aim of this review was to study and analyze the available literature data on the relationship of molecular genetic markers with the duration of the QT interval.Currently, there is a number of genetic studies that allow to identify a large number of mutations and polymorphisms of known genes that affect the variability of the QT interval, showing their significance in risk stratification of sudden arrhythmic death and choosing the right tactics for managing, preventing, and treating patients, thus reducing the risk of SCD. The predictive value of genetic testing is the highest for long QT syndrome (LQTS), for which a gene-specific risk profile has been established, and lower for other channelopathies. A large amount of genetic data may be a promising approach to quantifying the risk of SCD, especially at a young age, which will be facilitated by further study of this problem. |
| format | Article |
| id | doaj-art-e220f874831f4de280c97fcb253f8399 |
| institution | DOAJ |
| issn | 1682-0363 1819-3684 |
| language | English |
| publishDate | 2022-04-01 |
| publisher | Siberian State Medical University (Tomsk) |
| record_format | Article |
| series | Бюллетень сибирской медицины |
| spelling | doaj-art-e220f874831f4de280c97fcb253f83992025-08-20T03:02:04ZengSiberian State Medical University (Tomsk)Бюллетень сибирской медицины1682-03631819-36842022-04-0121113314310.20538/1682-0363-2022-1-133-1432876Molecular genetic markers of QT interval duration and sudden cardiac death: literature reviewA. M. Nesterets0V. N. Maksimov1Federal Research Center “Institute of Cytology and Genetics” of the Siberian Branch, Russian Academy of Sciences (FRC IC&G SB RAS); Research Institute of Internal and Preventive Medicine (IIPM), Branch of the Federal Research Center “Institute of Cytology and Genetics”, Siberian Branch of the Russian Academy of Sciences (FRC IC&G SB RAS)Federal Research Center “Institute of Cytology and Genetics” of the Siberian Branch, Russian Academy of Sciences (FRC IC&G SB RAS); Research Institute of Internal and Preventive Medicine (IIPM), Branch of the Federal Research Center “Institute of Cytology and Genetics”, Siberian Branch of the Russian Academy of Sciences (FRC IC&G SB RAS)The study of sudden cardiac death (SCD) and its etiopathogenesis in cardiology practice remains one of the most pressing public health problems. In Western countries, SCD accounts for 20% of the total mortality and 50% of mortality associated with cardiovascular diseases. Considering the electrical instability in the myocardium as one of the main reasons for the development of life-threatening arrhythmias (ventricular tachycardia / ventricular fibrillation) and SCD, one should be aware of such provoking factors as ischemic heart disease, myocarditis, valvular heart disease, pharmacological influences, cardiomyopathy, and channelopathy. An increase or decrease in the duration of the QT interval, which reflects the work of ion channels, as well as ventricular depolarization and repolarization, increases the risk of SCD.The aim of this review was to study and analyze the available literature data on the relationship of molecular genetic markers with the duration of the QT interval.Currently, there is a number of genetic studies that allow to identify a large number of mutations and polymorphisms of known genes that affect the variability of the QT interval, showing their significance in risk stratification of sudden arrhythmic death and choosing the right tactics for managing, preventing, and treating patients, thus reducing the risk of SCD. The predictive value of genetic testing is the highest for long QT syndrome (LQTS), for which a gene-specific risk profile has been established, and lower for other channelopathies. A large amount of genetic data may be a promising approach to quantifying the risk of SCD, especially at a young age, which will be facilitated by further study of this problem.https://bulletin.ssmu.ru/jour/article/view/4709sudden cardiac deathduration of the qt intervallong qt syndromeshort qt syndromesingle nucleotide polymorphismmolecular genetic marker |
| spellingShingle | A. M. Nesterets V. N. Maksimov Molecular genetic markers of QT interval duration and sudden cardiac death: literature review Бюллетень сибирской медицины sudden cardiac death duration of the qt interval long qt syndrome short qt syndrome single nucleotide polymorphism molecular genetic marker |
| title | Molecular genetic markers of QT interval duration and sudden cardiac death: literature review |
| title_full | Molecular genetic markers of QT interval duration and sudden cardiac death: literature review |
| title_fullStr | Molecular genetic markers of QT interval duration and sudden cardiac death: literature review |
| title_full_unstemmed | Molecular genetic markers of QT interval duration and sudden cardiac death: literature review |
| title_short | Molecular genetic markers of QT interval duration and sudden cardiac death: literature review |
| title_sort | molecular genetic markers of qt interval duration and sudden cardiac death literature review |
| topic | sudden cardiac death duration of the qt interval long qt syndrome short qt syndrome single nucleotide polymorphism molecular genetic marker |
| url | https://bulletin.ssmu.ru/jour/article/view/4709 |
| work_keys_str_mv | AT amnesterets moleculargeneticmarkersofqtintervaldurationandsuddencardiacdeathliteraturereview AT vnmaksimov moleculargeneticmarkersofqtintervaldurationandsuddencardiacdeathliteraturereview |