Ventricular arrhythmias in a child with Marfan syndrome: case report
https://doi.org/10.35336/VA-1282
EDN: NOBJKP
Abstract
We present a severe disease progression observed in a 13-year-old patient diagnosed with Marfan syndrome and associated cardiac rhythm disorders, including polymorphic ventricular premature contractions and persistent ventricular tachycardia resistant to a wide range of antiarrhythmic medications. We conducted an analysis of contemporary perspectives on the etiology of ventricular tachyarrhythmias and their impact on the prognosis of patients with Marfan syndrome. Conclusions were drawn regarding the selection of treatment strategies for this specific patient population.
About the Authors
V. V. Presova
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Viktoriya V. Presova
Moscow, 2 Taldomskaya str.
E. K. Kulbachinskaya
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow, 2 Taldomskaya str.
V. V. Bereznitskaya
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow, 2 Taldomskaya str.
References
1. MSD Directory. Professional version. Marfan syndrome. Date of access: 05/05/2023. (In Russ.). Доступно по ссылке: https://www.msdmanuals.com/ru-ru/профессиональный/педиатрия/заболевания-соединительной-ткани-у-детей/синдром-марфана.
2. Coelho SG, Almeida AG. Marfan syndrome revisited: From genetics to the clinic. Síndrome de Marfan revisitada - da genética à clínica. Rev Port Cardiol (Engl Ed). 2020;39(4): 215-226. https://doi.org/10.1016/j.repc.2019.09.008.
3. Milewicz DM, Braverman AC, De Backer J, et al. Publisher Correction: Marfan syndrome. Nat Rev Dis Primers. 2022;8(1): 3. Published 2022 Jan 17. https://doi.org/10.1038/s41572-022-00338-w.
4. Redmond JM. Chapter 8 - Genetic Basis of Aortic Disease. In. New Approaches to Aortic Diseases from Valve to Abdominal Bifurcation (Editor(s): Ţintoiu IC, Ursulescu A, Elefteriades JA, Underwood MJ, Droc I). Academic Press 2018: 91-100, ISBN 9780128099797, https://doi.org/10.1016/B978-0-12-809979-7.00008-0.
5. Trisvetova E.L. Clinical diagnostics of fibrillinopathies (type 1). Russian Journal of Cardiology. 2013;(2):89-93. (In Russ.). https://doi.org/10.15829/1560-4071-2013-2-89-93.
6. Zeigler SM, Sloan B, Jones JA. Pathophysiology and Pathogenesis of Marfan Syndrome. Adv Exp Med Biol. 2021;1348: 185-206. https://doi.org/10.1007/978-3-030-80614-9_8.
7. Vanem TT, Böker T, Sandvik GF, et al. Marfan syndrome: Evolving organ manifestations-A 10-year follow-up study. Am J Med Genet A. 2020;182(2): 397-408. https://doi.org/10.1002/ajmg.a.61441.
8. Yetman AT, Bornemeier RA, McCrindle BW. Long-term outcome in patients with Marfan syndrome: is aortic dissection the only cause of sudden death?. J Am Coll Cardiol. 2003;41(2): 329-332. https://doi.org/10.1016/s0735-1097(02)02699-2.
9. Hoffmann BA, Rybczynski M, Rostock T, et al. Prospective risk stratification of sudden cardiac death in Marfan’s syndrome. Int J Cardiol. 2013;167(6): 2539-2545. https://doi.org/10.1016/j.ijcard.2012.06.036.
10. Aydin A, Adsay BA, Sheikhzadeh S, et al. Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations. PLoS One. 2013;8(12): e81281. https://doi.org/10.1371/journal.pone.0081281.
11. Muiño-Mosquera L, De Wilde H, Devos D, et al. Myocardial disease and ventricular arrhythmia in Marfan syndrome: a prospective study. Orphanet J Rare Dis. 2020;15(1) :300. Published 2020 Oct 23. https://doi.org/10.1186/s13023-020-01581-8.
12. Demolder A, von Kodolitsch Y, Muiño-Mosquera L, De Backer J. Myocardial Function, Heart Failure and Arrhythmia in Marfan Syndrome: A Systematic Literature Review. Diagnostics (Basel). 2020;10(10): 751. https://doi.org/10.3390/diagnostics10100751.
13. Mah DY, Sleeper LA, Crosson JE, et al. Frequency of Ventricular Arrhythmias and Other Rhythm Abnormalities in Children and Young Adults With the Marfan Syndrome. Am J Cardiol. 2018;122(8): 1429-1436. https://doi.org/10.1016/j.amjcard.2018.07.006.
14. Hetzer R, Siegel G, Delmo Walter EM. Cardiomyopathy in Marfan syndrome. Eur J Cardiothorac Surg. 2016;49(2): 561-568. https://doi.org/10.1093/ejcts/ezv073.
15. Luneva EB, Malev EG, Korshunova AL et al. Manifestation of cardiomyopathy in patients with Marfan syndrome and marfanoid habitus. Pediatrician. 2016;7(4): 96-101 (In Russ.). https://doi.org/10.17816/ped7496-101.
16. Rudoj AS, Ury`vaev AM. Cardiomyopathy in Marfan syndrome. BSMU at the forefront of medical science and practice: a collection of scientific papers. 2016;6: 89-92 (In Russ.).
17. Meijboom LJ, Timmermans J, van Tintelen JP, et al. Evaluation of left ventricular dimensions and function in Marfan’s syndrome without significant valvular regurgitation. Am J Cardiol. 2005;95(6): 795-797. https://doi.org/10.1016/j.amjcard.2004.11.042.
18. Schaeffer BN, Rybczynski M, Sheikhzadeh S, et al. Heart rate turbulence and deceleration capacity for risk prediction of serious arrhythmic events in Marfan syndrome. Clin Res Cardiol. 2015;104(12): 1054-1063. https://doi.org/10.1007/s00392-015-0873-9.
19. Wafa SEI, Chahal CAA, Sawatari H, et al. Frequency of Arrhythmias and Postural Orthostatic Tachycardia Syndrome in Patients With Marfan Syndrome: A Nationwide Inpatient Study. J Am Heart Assoc. 2022;11(17): e024939. https://doi.org/10.1161/JAHA.121.024939.
Review
For citations:
Presova V.V., Kulbachinskaya E.K., Bereznitskaya V.V. Ventricular arrhythmias in a child with Marfan syndrome: case report. Journal of Arrhythmology. 2024;31(2):62-67. https://doi.org/10.35336/VA-1282. EDN: NOBJKP
Views:
726
Email this article 