The rationality of using DNA diagnostics in sports cardiology
https://doi.org/10.47529/2223-2524.2022.4.2
Abstract
NGS is becoming an integral part of medical practice, including in cardiology. The role of genes in the formation of diseases of the cardiovascular system has been actively studied for the last 20 years. Currently, heart diseases with a hereditary component are usually divided into two large groups: monogenic syndromes that lead to an unfavorable outcome, including sudden cardiac death at a young age, and polygenic conditions that manifest after 35 years and are accompanied by deterioration in the quality of life. In professional sports, changes in the myocardium are almost inevitable, however, the first phenotypic signs of hereditary myocardial disease may be hidden behind adaptive changes, which are commonly called “athlete’s heart”. The carriage of causative genes radically changes the approach to the management of an athlete: his admission to training and competitive activities is reviewed, the volume of permissible load and the frequency of visits to a cardiologist are discussed. In this paper, we tried to identify clinical markers — «red flags» that would indicate the need for genetic testing on the example of athletes who underwent an in-depth medical examination in 2021–2022.
About the Authors
A. I. Kadykova
Federal Research and Clinical Center of Sports Medicine and Rehabilitation of Federal Medical Biological Agency
Russian Federation
Russian Federation
Anastasia I. Kadykova, doctor of clinical laboratory diagnostics
5 Bolshaya Dorogomilovskaya str., Moscow, 121059
A. V. Zholinsky
Federal Research and Clinical Center of Sports Medicine and Rehabilitation of Federal Medical Biological Agency
Russian Federation
Russian Federation
Andrey V. Zholinsky, Ph.D. (Medicine), Director
5 Bolshaya Dorogomilovskaya str., Moscow, 121059
R. V. Deev
Federal Research and Clinical Center of Sports Medicine and Rehabilitation of Federal Medical Biological Agency;
I.I. Mechnikov North-Western State Medical University
Russian Federation
Russian Federation
Roman V. Deev, Ph.D. (Medicine), lead researcher of Federal Research and Clinical Center of Sports Medicine and Rehabilitation of Federal Medi cal Biological Agency; Head of the Departament of Pathological Anatomy of I.I. Mechnikov NorthWestern State Medical University
5 Bolshaya Dorogomilovskaya str., Moscow, 121059;
41 Kirochnaya str., St. Petersburg 191015
References
1. Shlyakhto E.V., Arutyunov G.P., Belenkov Yu.N., Boitsov S.A., Ardashev A.V., et al. Russian guidelines for sudden cardiac death risk assessment and prevention. 2-ed. Мoscow: Medpraktika-M Publ.; 2018 (In Russ.).
2. Kumar A., Avishay D.M., Jones C.R. Shaikh J.D., Kaur R., Aljadah M., et al. Sudden cardiac death: epidemiology, pathogenesis and management. Rev. Cardiovasc. Med. 2021; 22(1):147–158. https://doi.org/10.31083/j.rcm.2021.01.207
3. Revishvili A.Sh., Neminushchy N.M., Batalov R.E., Golitsyn S.P., Davtyan K.V., Dumpis Ya.Yu., et al. All-Russian clinical guidelines for the control of the risk of sudden cardiac arrest and sudden cardiac death, prevention and first aid. Vestnik aritmologii = Journal of Arrhythmology. 2017;(89):2–104 (In Russ.).
4. Makarov L.M. Sport and sudden death in children. Rossiyskiy Vestnik Perinatologii i Pediatrii = Russian Bulletin of Perinatology and Pediatrics. 2017;62(1):40–46 (In Russ.). https://doi.org/10.21508/1027-4065-2017-62-1-40-46
5. Corrado D., Basso C., Pavei A., Michieli P., Schiavon M., Thiene G. Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program. JAMA. 2006;296(13):1593–1601. https://doi.org/10.1001/jama.296.13.1593
6. Maron B.J., Doerer J.J., Haas T.S., Tierney D.M., Mueller F.O. Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980-2006. Circulation. 2009; 119(8):1085–1092. https://doi.org/10.1161/CIRCULATIONAHA.108.804617
7. Bezzina C.R., Lahrouchi N., Priori S.G. Genetics of sudden cardiac death. Circ. Res. 2015;116(12):1919–1936. https://doi.org/10.1161/CIRCRESAHA.116.304030
8. Smolensky A.V., Mikhailova A.V. Cardiology: National Guidelines. Sports and cardiovascular diseases. Kardiologiya: Novosti. Mneniya. Obuchenie = Cardiology: News. Opinions. Training. 2019;4(23):62–65 (In Russ.).
9. Lampert R., Zipes D.P. Updated Recommendations for Athletes with Heart Disease. Annu. Rev. Med. 2018;69:177–189. https://doi.org/10.1146/annurev-med-041316-090402
10. Hajduczok A.G., Ruge M., Emery M.S. Risk Factors for Sudden Death in Athletes, Is There a Role for Screening? Curr. Cardiovasc. Risk Rep. 2022;16(10):97–109. https://doi.org/10.1007/s12170-022-00697-9
11. Kang Y.N., Chi S.C., Wu M.H. Chiu H.H. The effects of losartan versus beta-blockers on cardiovascular protection in marfan syndrome: A systematic review and meta-analysis. J. Formos. Med. Assoc. 2020;119(1 Pt 1):182–190. https://doi.org/10.1016/j.jfma.2019.03.018
12. Yunisova A.S. Sports heart and QT variance. Akademiya meditsiny i sporta = Academy of Medicine and Sports. 2021;2(4):20–23 (In Russ.). https://doi.org/10.15829/2712-7567-2021-38
13. Ackerman M.J., Priori S.G., Willems S., Berul C., Brugada R., Calkins H., et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European heart rhythm association (EHRA). Heart Rhythm. 2011;8(8):1308–1339. https://doi.org/10.1016/j.hrthm.2011.05.020
14. Pelliccia A., Solberg E.E., Papadakis M., et al. Recommendations for participation in competitive and leisure time sport in athletes with cardiomyopathies, myocarditis, and pericarditis: position statement of the sport cardiology section of the European Association of Preventive Cardiology (EAPC). Eur. Heart. J. 2019;40(1):19–33. https://doi.org/10.1093/eurheartj/ehy730
15. Badtieva V.A., Tenyaeva E.A., Sichinava N.V. et al. Analysis of the dynamics and structure of morbidity of athletes of the national teams of Moscow based on the results of an in-depth medical examination. Sports medicine: science and practice. 2022;12(2):22–31 (In Russ.). https://doi.org/10.47529/2223-2524.2022.2.1
16. Harmon K.G., Asif I.M., Maleszewski J.J., Owens D.S., Prutkin J.M., Salerno J.C., et al. Incidence, Cause, and Comparative Frequency of Sudden Cardiac Death in National Collegiate Athletic Association Athletes: A Decade in Review. Circulation. 2015;132(1):10–19. https://doi.org/10.1161/CIRCULATIONAHA.115.015431
17. Pelliccia A., Sharma S., Gati S., Bäck M., Börjesson M., Caselli S., et al. 2020 ESC Guidelines on sports cardiology and exercise in patients with cardiovascular disease. Eur. Heart J. 2021;42(1):17–96. https://doi.org/10.1093/eurheartj/ehaa605
18. Gray B., Semsarian C. Utility of genetic testing in athletes. Clin. Cardiol. 2020;43(8):915–920. https://doi.org/10.1002/clc.23289
Review
For citations:
Kadykova A.I., Zholinsky A.V., Deev R.V. The rationality of using DNA diagnostics in sports cardiology. Sports medicine: research and practice. 2022;12(4):59-66. (In Russ.) https://doi.org/10.47529/2223-2524.2022.4.2
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