Introduction. Cardiac arrhythmias are the most common among the group of cardiovascular diseases (CVD), and can lead to sudden cardiac death (SCD). More than 2 million cases of SCD occur due to arrhythmia. Ion channels are crucial for the transmission of electrical signals in cardiomyocytes. Potassium (K+) channels play an important role in repolarization of action potential (AP). Cardiac channelopathies affect at least 1:1000 people, clinically appearing in various cardiac arrhythmias, seizures, syncope, SCD, etc. Nowadays identification of mutations in potassium channel genes in patients with arrhythmia and detection of genetic causes of arrhythmic heart diseases are actual in cardiology. Aim. To do research about potassium channel mutations in patients with cardiac arrhythmia according to a literature review. Research strategy. Search for scientific publications was carried out in the following databases: PubMed, Scopus, Web of Science and Google Academy. Criteria for inclusion of publications in the literature review were defined as publications with the full text, in Russian and English. The search depth was 10 years: from 2012 to 2022. 21 articles were selected as analytical material and went through a critical evaluation process. Results. The literature review showed that over the past decades we have made progress in understanding the genetic causes of arrhythmic heart diseases. Mutations in potassium channel genes underlie hereditary channelopathies, such as long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome, Andersen-Tawil syndrome, and including atrial fibrillation (AF). Conclusions. The molecular mechanisms that cause potassium channel dysfunction remain poorly understood. Genotyping technologies can help to understand molecular pathways associated with mutations in potassium channel genes and will identify new therapeutic targets in arrhythmia.
Ayaulym E. Chamoieva 1,2, https://orcid.org/0000-0003-0877-3537 Ainur R. Akilzhanova 1,2, https://orcid.org/0000-0001-6161-8355 1 National Laboratory Astana, Nazarbayev University, Nur-Sultan city, Republic of Kazakhstan; 2 L.N. Gumilyov Eurasian National University, Nur-Sultan city, Republic of Kazakhstan.
1. Бокерия О.Л., Санакоев М.К. Синдром удлиненного QT-интервала // Анналы аритмологии. 2015. № 12(2). C. 114-127. 2. Бокерия Л.А., Проничева И.В. Современный статус генетической обоснованности аритмий // Анналы аритмологии. 2018. № 15(3). C. 142-156. 3. Канатбаева А.А. Профилактика и лечение сердечно-сосудистых заболеваний (АГ, ИБС) // Вестник КазНМУ. 2013. № 4(1). С. 139-141. 4. Amin A.S., Wilde A.A. Genetic Control of Potassium Channels // Card Electrophysiol Clin. 2016. № 8(2). P. 285-306. 5. Bohnen M.S., Peng G., Robey S.H., Terrenoire C., Iyer V., Sampson K.J., Kass R.S. Molecular Pathophysiology of Congenital Long QT Syndrome // Physiological reviews. 2017. № 97(1). P. 89–134. 6. Crotti L., Odening K.E., Sanguinetti M.C. Heritable arrhythmias associated with abnormal function of cardiac potassium channels // Cardiovascular research. 2020. № 116(9). P. 1542–1556. 7. Dehghani-Samani A., Madreseh-Ghahfarokhi S., Dehghani-Samani A. Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias // Acta Cardiologica Sinica. 2019. № 35(2). P. 99–110. 8. Dotzler S.M., Kim C., Gendron W., Zhou W., Ye.D., Bos J.M., Tester D.J., Barry M.A., Ackerman M.J. Suppression-Replacement KCNQ1 Gene Therapy for Type 1 Long QT Syndrome // Circulation. 2021. № 143(14). P. 1411–1425. 9. Feghaly J., Zakka P., London B., MacRae C.A., Refaat M.M. Genetics of Atrial Fibrillation // Journal of the American Heart Association. 2018. № 7(20), e009884. 10. Garcia-Elias A., Benito B. Ion Channel Disorders and Sudden Cardiac Death // Int J Mol Sci. 2018. № 19(3). 11. Giudicessi J. R., Ackerman M. J. Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy // Nat Rev Cardiol. 2012. № 9(6). P. 319-332. 12. Guo S., Rubart M. Illuminating Kir channel function in Anderson-Tawil syndrome // Cardiovascular research. 2021. № 117(8). P. 1803–1805. 13. Hancox J.C., Whittaker D.G., Du C., Stuart A.G., Zhang H. Emerging therapeutic targets in the short QT syndrome // Expert opinion on therapeutic targets. 2018. № 22(5). P. 439–451. 14. Mahida S. Genetic Discoveries in Atrial Fibrillation and Implications for Clinical Practice // Arrhythmia & electrophysiology review. 2014. № 3(2). P. 69–75. 15. Parvez B., Chopra N., Rowan S., Vaglio J.C., Muhammad R., Roden D.M., Darbar D. A common β1-adrenergic receptor polymorphism predicts favorable response to rate-control therapy in atrial fibrillation // Journal of the American College of Cardiology. 2012. № 59(1). P. 49–56. 16. Priori S.G., Blomström-Lundqvist C., Mazzanti A., Blom N., Borggrefe M., Camm J., Elliott P.M., Fitzsimons D., Hatala R., Hindricks G., Kirchhof P., Kjeldsen K. et al. ESC Scientific Document Group. 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC) // European heart journal. 2015. № 36(41). P. 2793–2867. 17. Schmitt N., Grunnet M., Olesen S.P. Cardiac potassium channel subtypes: new roles in repolarization and arrhythmia // Physiological reviews. 2014. № 94(2). P. 609-653. 18. Sroubek J., Probst V., Mazzanti A., Delise P., Hevia J.C., Ohkubo K., Zorzi A., Champagne J., Kostopoulou A., Yin X., Napolitano C., Milan D.J., Wilde A., Sacher F., Borggrefe M., Ellinor P.T., Theodorakis G., Nault I., Corrado D., Watanabe I., Lubitz S.A. Programmed Ventricular Stimulation for Risk Stratification in the Brugada Syndrome: A Pooled Analysis // Circulation. 2016. № 133(7). P. 622–630. 19. Tester D.J., Ackerman M.J. Genetics of long QT syndrome // Methodist DeBakey cardiovascular journal. 2014. 10(1). P. 29–33. 20. World Health Organization (WHO) [Electronic resource] URL: https://www.who.int/ru/news-room/fact-sheets/detail/cardiovascular-diseases-(cvds) (дата обращения: 17.05.2017). 21. Wilkins E., Wilson L., Wickramasinghe K., Bhatnagar P., Leal J., Luengo-Fernandez R., Townsend N. European cardiovascular disease statistics 2017 // European Heart Network. Brussels. 2017. 188 p. References: [1-3] 1. Bokerija O.L., Sanakoev M.K. Sindrom udlinennogo QT-intervala [Long Q-T syndrome]. Annaly aritmologii [Аnnals of arrhythmology]. 2015. № 12(2). P. 114-127. [in Russian] 2. Bokerija L.A., Pronicheva I.V. Sovremennyj status geneticheskoj obosnovannosti aritmij [Modern status of the genetic validity of arrhythmias]. Annaly aritmologii [Аnnals of arrhythmology]. 2018. № 15(3). P. 142-156. [in Russian] 3. Kanatbaeva A.A. Profilaktika i lechenie serdechno-sosudistyh zabolevanij (AG, IBS) [Prevention and treatment of cardiovascular diseases (AH, CHD)]. Vestnik KazNMU [Journal KazNMU]. 2013. № 4(1). P. 139-141. [in Russian]
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Чамойева А.Е., Акильжанова А.Р. Жүрек аритмиясы бар науқастардағы калий каналы гендеріндегі мутациялар. Әдебиеттік шолу // Ғылым және Денсаулық сақтау. 2022. 3 (Т.24). Б. 117-126. doi 10.34689/SH.2022.24.3.015

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