Sport and inherited arrhythmogenic syndromes
DOI:
https://doi.org/10.47197/retos.v51.100148Keywords:
Genetics. Sport. Sudden cardiac death. Hereditary arrhythmic syndromesAbstract
Inherited arrhythmogenic syndromes are a group of cardiac pathologies associated with malignant arrhythmias and sudden cardiac death, sometimes the first manifestation of the pathology. These syndromes usually manifest in the population under 35 years of age, causing arrhythmogenic episodes during sports practice. For this reason, carrying out exhaustive cardiological studies on athletes, regardless of the sport practiced, level of demand, age or gender, is essential to prevent these malignant episodes. The main entities included in this group are Long QT syndrome, Brugada syndrome, Short QT syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia. A large part of the mechanisms that predispose to inherited cardiac arrhythmias continue to be one of the challenges to be resolved by biomedical research, since some of the complications in arrhythmias only occur when there is a perfect interaction between environmental and genetic factors. Advances in the study of the genome have made it possible to identify a multitude of variants in numerous genes, being these genetic alterations responsible for the predisposition to arrhythmias. As these are hereditary syndromes, other family members may be carriers of the same genetic defect, so carrying out a phenotype-genotype correlation in these families makes it possible to identify other members at risk of suffering lethal arrhythmogenic episodes.
Key Words: Genetics. Sport. Sudden cardiac death. Inherited arrhythmic syndromes.
References
Ackerman, M. J., Zipes, D. P., Kovacs, R. J., & Maron, B. J. (2015). Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 10: The Cardiac Channelopathies: A Scientific Statement From the American Heart Association and American College of Cardiology. J Am Coll Cardiol, 66(21), 2424-2428. doi:10.1016/j.jacc.2015.09.042
Bhaskaran, A., De Silva, K., & Kumar, S. (2022). Contemporary updates on ventricular arrhythmias: from mechanisms to management. Intern Med J. doi:10.1111/imj.15976
Campuzano, O., Sanchez-Molero, O., Fernandez, A., Mademont-Soler, I., Coll, M., Perez-Serra, A., et al. (2017). Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis. Sports Med. doi:10.1007/s40279-017-0705-3
Castelletti, S., Zorzi, A., Ballardini, E., Basso, C., Biffi, A., Brancati, F., et al. (2022). Molecular genetic testing in athletes: Why and when a position statement from the Italian Society of Sports Cardiology. Int J Cardiol, 364, 169-177. doi:10.1016/j.ijcard.2022.05.071
Cheung, C. C., Laksman, Z. W., Mellor, G., Sanatani, S., & Krahn, A. D. (2016). Exercise and Inherited Arrhythmias. Can J Cardiol, 32(4), 452-458. doi:10.1016/j.cjca.2016.01.007
Coll, M., Perez-Serra, A., Mates, J., Del Olmo, B., Puigmule, M., Fernandez-Falgueras, A., et al. (2017). Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death. Biology (Basel), 7(1). doi:10.3390/biology7010003
Davydoff, C., Andorin, A., Minois, D., Arnaud, M., Minier, M., Sacher, F., et al. (2022). Does sports participation increase risk in patients with long QT syndrome? Results from a large French cohort. Europace, 24(10), 1675-1683. doi:10.1093/europace/euac047
Hammond-Haley, M., Patel, R. S., Providencia, R., & Lambiase, P. D. (2016). Exercise restrictions for patients with inherited cardiac conditions: Current guidelines, challenges and limitations. Int J Cardiol, 209, 234-241. doi:10.1016/j.ijcard.2016.02.023
Harmon, K. G., Asif, I. M., Maleszewski, J. J., Owens, D. S., Prutkin, J. M., Salerno, J. C., et al. (2016). Incidence and Etiology of Sudden Cardiac Arrest and Death in High School Athletes in the United States. Mayo Clin Proc, 91(11), 1493-1502. doi:10.1016/j.mayocp.2016.07.021
Heidbuchel, H., Adami, P. E., Antz, M., Braunschweig, F., Delise, P., Scherr, D., et al. (2021). Recommendations for participation in leisure-time physical activity and competitive sports in patients with arrhythmias and potentially arrhythmogenic conditions: Part 1: Supraventricular arrhythmias. A position statement of the Section of Sports Cardiology and Exercise from the European Association of Preventive Cardiology (EAPC) and the European Heart Rhythm Association (EHRA), both associations of the European Society of Cardiology. Eur J Prev Cardiol, 28(14), 1539-1551. doi:10.1177/2047487320925635
Heidbuchel, H., Panhuyzen-Goedkoop, N., Corrado, D., Hoffmann, E., Biffi, A., Delise, P., et al. (2006). Recommendations for participation in leisure-time physical activity and competitive sports in patients with arrhythmias and potentially arrhythmogenic conditions Part I: Supraventricular arrhythmias and pacemakers. Eur J Cardiovasc Prev Rehabil, 13(4), 475-484.
Hu, T., Chitnis, N., Monos, D., & Dinh, A. (2021). Next-generation sequencing technologies: An overview. Hum Immunol, 82(11), 801-811. doi:10.1016/j.humimm.2021.02.012
Limongelli, G., Nunziato, M., D'Argenio, V., Esposito, M. V., Monda, E., Mazzaccara, C., et al. (2021). Yield and clinical significance of genetic screening in elite and amateur athletes. Eur J Prev Cardiol, 28(10), 1081-1090. doi:10.1177/2047487320934265
López García, S., Diez Fernández, P., Amatria Jiménez, M., Maneiro Dios, R., Abelairas Gómez, C., & Moral García, J. E. (2020). Drowning as the main cause of death in the first stages of life, teachers as active participators in education and its prevention. Retos, 38, 811-817. doi:10.47197/retos.v38i38.72134
Maron, B. J., Chaitman, B. R., Ackerman, M. J., Bayes de Luna, A., Corrado, D., Crosson, J. E., et al. (2004). Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. Circulation, 109(22), 2807-2816. doi:10.1161/01.CIR.0000128363.85581.E1
Martinez-Barrios, E., Sarquella-Brugada, G., Perez-Serra, A., Fernandez-Falgueras, A., Cesar, S., Alcalde, M., et al. (2023). Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort. Int J Legal Med, 137(2), 345-351. doi:10.1007/s00414-023-02951-0
Mitten, M. J., Maron, B. J., & Zipes, D. P. (2005). Task Force 12: legal aspects of the 36th Bethesda Conference recommendations. J Am Coll Cardiol, 45(8), 1373-1375. doi:10.1016/j.jacc.2005.02.019
Pelliccia, A., Fagard, R., Bjornstad, H. H., Anastassakis, A., Arbustini, E., Assanelli, D., et al. (2005). Recommendations for competitive sports participation in athletes with cardiovascular disease: a consensus document from the Study Group of Sports Cardiology of the Working Group of Cardiac Rehabilitation and Exercise Physiology and the Working Group of Myocardial and Pericardial Diseases of the European Society of Cardiology. Eur Heart J, 26(14), 1422-1445. doi:10.1093/eurheartj/ehi325
Pelliccia, A., Sharma, S., Gati, S., Back, M., Borjesson, M., Caselli, S., et al. (2021). 2020 ESC Guidelines on sports cardiology and exercise in patients with cardiovascular disease. Eur Heart J, 42(1), 17-96. doi:10.1093/eurheartj/ehaa605
Pelliccia, A., Solberg, E. E., Papadakis, M., Adami, P. E., Biffi, A., Caselli, S., et al. (2019). 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, 40(1), 19-33. doi:10.1093/eurheartj/ehy730
Priori, S. G., & Blomstrom-Lundqvist, C. (2015). 2015 European Society of Cardiology Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death summarized by co-chairs. Eur Heart J, 36(41), 2757-2759. doi:10.1093/eurheartj/ehv445
Priori, S. G., Wilde, A. A., Horie, M., Cho, Y., Behr, E. R., Berul, C., et al. (2013). HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart Rhythm, 10(12), 1932-1963. doi:10.1016/j.hrthm.2013.05.014
Solberg, E. E., Borjesson, M., Sharma, S., Papadakis, M., Wilhelm, M., Drezner, J. A., et al. (2016). Sudden cardiac arrest in sports - need for uniform registration: A Position Paper from the Sport Cardiology Section of the European Association for Cardiovascular Prevention and Rehabilitation. Eur J Prev Cardiol, 23(6), 657-667. doi:10.1177/2047487315599891
Stroker, E., de Asmundis, C., Chierchia, G. B., & Brugada, P. (2016). Exercise-related Brugada pattern and monomorphic ventricular tachycardia in a patient with Brugada syndrome: interplay between body temperature, haemodynamics and vagal activity. Eur Heart J, 37(7), 655. doi:10.1093/eurheartj/ehv263
Suarez-Mier, M. P., Aguilera, B., Mosquera, R. M., & Sanchez-de-Leon, M. S. (2013). Pathology of sudden death during recreational sports in Spain. Forensic Sci Int, 226(1-3), 188-196. doi:10.1016/j.forsciint.2013.01.016
Takken, T., Giardini, A., Reybrouck, T., Gewillig, M., Hovels-Gurich, H. H., Longmuir, P. E., et al. (2012). Recommendations for physical activity, recreation sport, and exercise training in paediatric patients with congenital heart disease: a report from the Exercise, Basic & Translational Research Section of the European Association of Cardiovascular Prevention and Rehabilitation, the European Congenital Heart and Lung Exercise Group, and the Association for European Paediatric Cardiology. Eur J Prev Cardiol, 19(5), 1034-1065. doi:10.1177/1741826711420000
Tester, D. J., & Ackerman, M. J. (2009). Cardiomyopathic and channelopathic causes of sudden unexplained death in infants and children. Annu Rev Med, 60, 69-84. doi:10.1146/annurev.med.60.052907.103838
Tobert, K. E., Bos, J. M., Garmany, R., & Ackerman, M. J. (2021). Return-to-Play for Athletes With Long QT Syndrome or Genetic Heart Diseases Predisposing to Sudden Death. J Am Coll Cardiol, 78(6), 594-604. doi:10.1016/j.jacc.2021.04.026
Toresdahl, B. G., Rao, A. L., Harmon, K. G., & Drezner, J. A. (2014). Incidence of sudden cardiac arrest in high school student athletes on school campus. Heart Rhythm, 11(7), 1190-1194. doi:10.1016/j.hrthm.2014.04.017
Visseren, F. L. J., Mach, F., Smulders, Y. M., Carballo, D., Koskinas, K. C., Back, M., et al. (2022). 2021 ESC Guidelines on cardiovascular disease prevention in clinical practice. Eur J Prev Cardiol, 29(1), 5-115. doi:10.1093/eurjpc/zwab154
Wilde, A. A. M., Semsarian, C., Marquez, M. F., Sepehri Shamloo, A., Ackerman, M. J., Ashley, E. A., et al. (2022). European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases. Heart Rhythm. doi:10.1016/j.hrthm.2022.03.1225
Zeppenfeld, K., Tfelt-Hansen, J., de Riva, M., Winkel, B. G., Behr, E. R., Blom, N. A., et al. (2022). 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J, 43(40), 3997-4126. doi:10.1093/eurheartj/ehac262
Zipes, D. P., Ackerman, M. J., Estes, N. A., 3rd, Grant, A. O., Myerburg, R. J., & Van Hare, G. (2005). Task Force 7: arrhythmias. J Am Coll Cardiol, 45(8), 1354-1363. doi:10.1016/j.jacc.2005.02.014
Zipes, D. P., Camm, A. J., Borggrefe, M., Buxton, A. E., Chaitman, B., Fromer, M., et al. (2006). ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (writing committee to develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death): developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. Circulation, 114(10), e385-484. doi:10.1161/circulationaha.106.178233
Zipes, D. P., & Garson, A., Jr. (1994). 26th Bethesda conference: recommendations for determining eligibility for competition in athletes with cardiovascular abnormalities. Task Force 6: arrhythmias. J Am Coll Cardiol, 24(4), 892-899. doi:10.1016/0735-1097(94)90847-8
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