Possibilities and difficulties of diagnostics of hereditary arrhythmic syndromes in real clinical practice
https://doi.org/10.35336/VA-1474
Abstract
The review article discusses current aspects of diagnostics of hereditary arrhythmic syndromes, according to clinical guidelines, and difficulties that have arisen in real clinical practice, as well as possible ways to solve them. A systemic and multidisciplinary approach to solving these problems will contribute to increasing the effectiveness of clinical genetic studies and thereby improving the prevention of malignant arrhythmias and sudden cardiac death.
About the Authors
B. G. Iskenderov
Penza Institute for Further Training of Physicians - Branch Campus of the FSBEI of FPE «Russian Medical Academy of Continuous Professional Education» of the MH RF
Russian Federation
Russian Federation
Bakhram Iskenderov
Penza, 8A Stasova str.
T. V. Lokhina
Penza Institute for Further Training of Physicians - Branch Campus of the FSBEI of FPE «Russian Medical Academy of Continuous Professional Education» of the MH RF; FSBEI of HE «Penza State University»
Russian Federation
Russian Federation
Penza, 8A Stasova str.
Penza 40 Krasnaya str.
L. F. Burmistrova
FSBEI of HE «Penza State University»
Russian Federation
Russian Federation
Penza 40 Krasnaya str.
References
1. Behr ER, Scrocco C, Wilde AAM, et al. Investigation on sudden unexpected death in the young in Europe: results of the European Heart Rhythm Association Survey. Europace. 2022;24(2): 331-339. https://doi.org/10.1093/europace/euab176.
2. Priori SG, Marino M. Sudden cardiac death in the young: are we still missing the opportunity to prevent recurrences in the family? Heart Rhythm. 2021;18(10): 1645-1646. https://doi.org/10.1016/j.hrthm.2021.06.1179.
3. Wong CX, Brown A, Lau DH, et al. Epidemiology of sudden cardiac death: global and regional perspectives. Heart, Lung and Circulation. 2019;28(1): 6-14. https://doi.org/10.1016/j.hlc.2018.08.026.
4. Schwartz PJ, Ackerman MJ, Antzelevitch C, et al. Inherited cardiac arrhythmias. Nature Reviews Disease Primers. 2020;6(1): 58. https://doi.org/10.1038/s41572-020-0188-7.
5. Offerhaus JA, Bezzina CR, Wilde AAM. Epidemiology of inherited arrhythmias. Nature Reviews Cardiology. 2020;17(4): 205-215. https://doi.org/10.1038/s41569-019- 0266-2.
6. Conte G, Scherr D, Lenarczyk R, et al. Diagnosis, family screening, and treatment of inherited arrhythmogenic diseases in Europe: results of the European Heart Rhythm Association Survey. Europace. 2020;22(12): 1904-1910. https://doi.org/10.1093/europace/euaa223.
7. Zeljkovic I, Gauthey A, Manninger M, et al. Genetic testing for inherited arrhythmia syndromes and cardiomyopathies: results of the European Heart Rhythm Association survey. EP Europace. 2024;26(9): euae216. https://doi.org/10.1093/europace/euae216.
8. Shlyahto EV, Arutyunov GP, Belenkov YuN, et al. National guidelines on risk stratification an prevention of sudden cardiac death (2-nd edition) M.: MEDPRACTICA-M 2018:247p. (In Russ.). ISBN: 978-5-98803-397-4.
9. Janzen ML, Davies B, Laksman ZWM, et al. Management of inherited arrhythmia syndromes: a HiRO consensus handbook on process of care. Canadian Journal of Cardiology Open. 2023;5(4): 268-284. https://doi.org/10.1016/j.cjco.2023.02.006. 10. van den Heuvel LM, Do J, Yeates L, et al. Global approaches to cardiogenetic evaluation after sudden cardiac death in the young: a survey among health care professionals. Heart Rhythm. 2021;18(10): 1637-1644. https://doi. org/10.1016/j.hrthm.2021.03.037.
10. Peltenburg PJ, Crotti L, Roston TM, et al. Current gaps in knowledge in inherited arrhythmia syndromes. Netherlands Heart Journal. 2023;31(7-8): 272-281. https://doi.org/10.1007/s12471-023-01797-w.
11. Nakano Y, Shimizu W. Brugada syndrome as a major cause of sudden cardiac death in Asians. Journal of the American College of Cardiology: Asia. 2022;2(4): 412- 421. https://doi.org/10.1016/j.jacasi.2022.03.011.
12. Wilde AAM, Amin AS, Postema PG. Diagnosis, management, and therapeutic strategies for congenital long QT syndrome. Heart. 2022;108: 332-338. https://doi.org/10.1136/heartjnl-2020-318259.
13. Pérez-Riera AR, Barbosa-Barros R, Samesina N, et al. Andersen-Tawil syndrome: a comprehensive review. Cardiology in Review. 2021;29: 165-177. https://doi.org/10.1097/CRD.0000000000000326.
14. Bockeria LA, Pronicheva IV, Serguladze SYu. Short QT syndrome and sudden cardiac death: recent clinical and genetic advances. Annaly aritmologii. 2022;19(3): 196-206. (In Russ.). https://doi.org/10.15275/annaritmol.2022.3.9.
15. Bains S, Neves R, J. Bos M, et al. Phenotypes of overdiagnosed long QT syndrome. Journal of the American College of Cardiology. 2023;81(5): 477-486. https://doi.org/10.1016/j.jacc.2022.11.036.
16. Martínez-Barrios E, Cesar S, Cruzalegui J, et al. Clinical genetics of inherited arrhythmogenic disease in the pediatric population. Biomedicines. 2022;10(1): 106. https://doi.org/10.3390/biomedicines10010106.
17. Wilde AAM, Semsarian C, Marquez MF, et al. 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. 2022;19(7): e1-e59. https://doi.org/10.1016/j.hrthm.2022.03.1225.
18. Specterman MJ, Behr E, Cardiogenetics: the role of genetic testing for inherited arrhythmia syndromes and sudden death. Heart. 2023;109(6): 434-441. https://doi.org/10.1136/heartjnl-2021-320015.
19. Iskenderov BG, Lokhina TV, Molokova EA, et al. Congenital long QT syndrome: genetic architecture, risk stratification and treatment approaches. International Journal of Heart and Vascular Diseases. 2024;12(42): 5-15 (In Russ.. https://doi.org/10.24412/2311-1623-2024-42-5-15.
20. Lahrouchi N, Tadros R, Crotti L, et al. Transethnic genome-wide association study provides insights in the genetic architecture and heritability of long QT syndrome. Circulation. 2020;142(4): 324-338. https://doi.org/10.1161/CIRCULATIONAHA.120.045956.
21. Singh M, Morin DP, Link MS. Sudden cardiac death in long QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. Progress in Cardiovascular Diseases. 2019;62(3): 227-234. https://doi.org/10.1016/j.pcad.2019.05.006.
22. Voskoboinik A, Hsia H, Moss J, et al. The many faces of early repolarization syndrome: a single-center case series. Heart Rhythm. 2020;17(2): 273-281. https://doi.org/10.1016/j.hrthm.2019.09.013.
23. Schwartz PJ. 1970-2020: 50 years of research on the long QT syndrome: from almost zero knowledge to precision medicine. European Heart Journal. 2021;42(11): 1063-1072. https://doi.org/10.1093/eurheartj/ehaa769.
24. Minier M, Probst V, Berthome P, et al. Age at diagnosis of Brugada syndrome: influence on clinical characteristics and risk of arrhythmia. Heart Rhythm. 2020;17(5 Pt A): 743-749. https://doi.org/10.1016/j.hrthm.2019.11.027.
25. Domain G, Steinberg C, Davies B, et al. Long-term monitoring to detect risk of sudden cardiac death in inherited arrhythmia patients. Canadian Journal of Cardiology Open. 2024;6(9): 1066-1074. https://doi.org/10.1016/j.cjco.2024.05.007.
26. Guo S, Zha L. Pathogenesis and clinical characteristics of hereditary arrhythmia diseases. Genes. 2024;15(11): 1368. https://doi.org/10.3390/genes15111368
27. Piciacchia F, Auricchio A, Behr ER, et al. Family history of sudden cardiac death in the young and inherited arrhythmia syndromes: awareness and attitudes of general practitioners and private practice cardiologists. Circulation: Genomic and Precision Medicine. 2023;16: 92-93. https://doi.org/10.1161/CIRCGEN.122.003913
28. Franklin WH, Laubham M. Neurologic complications of genetic channelopathies. Handbook of Clinical Neurology. 2021;177: 185-188. https://doi.org/10.1016/B978-0-12-819814-8.00014-7.
29. Badura K, Bufawska D, Dabek B, et al. Primary electrical heart disease - principles of pathophysiology and genetics. International Journal of Molecular Sciences. 2024;25(3): 1826. https://doi.org/10.3390/ijms25031826
30. Aggarwal A, Stolear A, Alam MM, et al. Catecholaminergic polymorphic ventricular tachycardia: clinical characteristics, diagnostic evaluation and therapeutic strategies. Journal of Clinical Medicine. 2024;13(6): 1781. https://doi.org/10.3390/jcm13061781.
31. Yang Y, Lv TT, Li SY, et al. Utility of provocative testing in the diagnosis and genotyping of congenital long QT syndrome: a systematic review and meta-analysis. Journal of the American Heart Association. 2022;11(14): e025246. https://doi.org/10.1161/JAHA.122.025246.
32. Kim CW, Aronow WS, Dutta T, et al. Catecholaminergic polymorphic ventricular tachycardia. Cardiology in Review. 2020;28(6): 325-331. https://doi.org/10.1097/CRD.0000000000000302.
33. Kallas D, Roston TM, Franciosi S, et al. Evaluation of age at symptom onset, proband status, and sex as predictors of disease severity in pediatric catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm. 2021;18(11): 1825-1832. https://doi.org/10.1016/j.hrthm.2021.07.061.
34. Shlobin NA, Thijs RD, Benditt DG, et al. Sudden death in epilepsy: the overlap between cardiac and neurological factors. Brain Commun. 2024;6(5): fcae309. https://doi.org/10.1093/braincomms/fcae309.
35. Balfe C, Durand R, Crinion D, et al. The evidence for the implantable loop recorder in patients with inherited arrhythmia syndromes: a review of the literature. Europace. 2022;24(5): 706-712. https://doi.org/10.1093/europace/euab256.
36. Loginova EN, Kirkh EA, Nechaeva GI, et al. Role of genetic research in the prevention of life-threatening rhythm and cardiac conduction disorders in young people. Russian Journal of Cardiology. 2022;27(10): 4991. (In Russ.). https://doi.org/10.15829/1560-4071-2022-4991.
37. Lebedev D.S., Mikhailov E.N., Neminuschiy N.M. et al. Ventricular arrhythmias. Ventricular tachycardias and sudden cardiac death. 2020 Clinical guidelines. Russian Journal of Cardiology. 2021;26(7):4600. Russian Journal of Cardiology. (In Russ.). https://doi.org/10.15829/1560-4071-2021-4600.
38. Zeppenfeld K, Tfelt-Hansen J, de Riva M, et al. ESC Scientific Document Group. 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. European Heart Journal. 2022;43(40):3997-4126. https://doi.org/10.1093/eurheartj/ehac262.
39. Martin S, Jenewein T, Geisen C, et al. Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders. BMC Cardiovascular Disorders. 2024;24(1): 390. https://doi.org/10.1186/s12872-024-04065-w.
40. Martínez-Barrios E, Grassi S, Brión M, et al. Molecular autopsy: twenty years of post-mortem diagnosis in sudden cardiac death. Frontiers of Medicine. 2023;10: 1118585. https://doi.org/10.3389/fmed.2023.1118585.
41. Lynge TH, Albert CM, Basso C, et al. Autopsy of all young sudden death cases is important to increase survival in family members left behind. Europace. 2024;26(6): euae128. https://doi.org/10.1093/europace/euae128.
42. Isbister JC, Semsarian C. The role of the molecular autopsy in sudden cardiac death in young individuals. Nature Reviews Cardiology. 2024;21: 215-216. https://doi. org/10.1038/s41569-024-00989-0.
43. Dellefave-Castillo LM, Cirino AL, Callis TE, et al. Assessment of the diagnostic yield of combined cardiomyopathy and arrhythmia genetic testing. Journal of the American Medical Association: Cardiology. 2022;7(9): 966-974. https://doi.org/10.1001/jamacardio.2022.2455
44. Campuzano O, Sarquella-Brugada G, Cesar S, et al. Update on genetic basis of Brugada syndrome: monogenic, polygenic or oligogenic? International Journal of Molecular Sciences. 2020;21(19): 7155. https://doi.org/10.3390/ijms21197155.
45. Wang M, Tu X. The genetics and epigenetics of ventricular arrhythmias in patients without structural heart disease. Frontiers in Cardiovascular Medicine. Med. 2022;9: 891399. https://doi.org/10.3389/fcvm.2022.891399.
46. McGlinchey L, Barr O, Black P. Healthcare professionals’ knowledge of inherited cardiac arrhythmias (ICA) their views towards and confidence in caring for a person with an ICA in a surgical environment. European Heart Journal. 2022;43(Suppl.2): ehac544.670. https://doi.org/10.1093/eurheartj/ehac544.670.
Review
For citations:
Iskenderov B.G., Lokhina T.V., Burmistrova L.F. Possibilities and difficulties of diagnostics of hereditary arrhythmic syndromes in real clinical practice. Journal of Arrhythmology. 2025;32(2):62-72. https://doi.org/10.35336/VA-1474
Views:
531
Email this article 