Familial Idiopathic Ventricular Fibrillation: Mother and Son
Abstract
Idiopathic ventricular fibrillation, triggered by short-coupled interval ventricular extrasystoles (sc-VE), has been studied extensively over the years and has recently garnered significant attention. Its familial form is rare, severe, and challenging to manage due to the absence of clinical markers to predict the future risk of fatal arrhythmogenic events in asymptomatic relatives of affected individuals. We report the case of a 25-year-old male patient with no prior medical history and a family history of a mother who died from sudden cardiac death due to torsades de pointes and ventricular fibrillation triggered by sc-VE. The patient presented with episodes of torsades de pointes, repetitive ventricular responses, and short-coupled idiopathic ventricular fibrillation, characterized by an ultrashort coupling interval of 280 ms. He experienced frequent episodes, refractory to antiarrhythmic pharmacological therapy, requiring several external electrical shocks. Conventional diagnostic studies revealed normal findings. An automatic implantable cardioverter-defibrillator (ICD) was implanted; however, complications arose in the early months, including electrical storm and bacterial endocarditis, which were successfully managed. The patient was subsequently treated with quinidine and has remained asymptomatic for 11 years, fully reintegrated into his personal, social, and professional life. To our knowledge, this is the first reported case of short-coupled familial idiopathic ventricular fibrillation in Cuba.Downloads
References
1. Belhassen B, Tovia-Brodie O. Short-Coupled Idiopathic Ventricular Fibrillation: A Literature Review With Extended Follow-Up. JACC Clin Electrophysiol. 2022;8(7):918-36. DOI: https://doi.org/10.1016/j.jacep.2022.04.013
2. Ten Sande JN, Postema PG, Boekholdt SM, Tan HL, van der Heijden JF, de Groot NM, et al. Detailed characterization of familial idiopathic ventricular fibrillation linked to the DPP6 locus. Heart Rhythm. 2016;13(4):905-12. DOI: https://doi.org/10.1016/j.hrthm.2015.12.006
3. Alders M, Koopmann TT, Christiaans I, Postema PG, Beekman L, Tanck MW, et al. Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation. Am J Hum Genet. 2009;84(4):468-76. DOI: https://doi.org/10.1016/j.ajhg.2009.02.009
4. Steinberg C, Davies B, Mellor G, Tadros R, Laksman ZW, Roberts JD, et al. Short-coupled ventricular fibrillation represents a distinct phenotype among latent causes of unexplained cardiac arrest: a report from the CASPER registry. Eur Heart J. 2021 Jul 31;42(29):2827-38. DOI: https://doi.org/10.1093/eurheartj/ehab275
5. Almehairi M, Alshiekh-Ali AA, Alfagih A. Idiopathic short-coupled ventricular tachyarrhythmias: Systematic review and validation of electrocardiographic indices. Egypt Heart J. 2018;70(4):301-6. DOI: https://doi.org/10.1016/j.ehj.2018.06.003
6. Dorantes Sánchez M, Ponce Paredes E, Falcón Rodríguez R. Extrasístoles ventriculares con intervalo corto de acoplamiento como detonantes de arritmias malignas. CorSalud [Internet]. 2016 [citado ];8(3):144-52. Disponible en: https://revcorsalud.sld.cu/index.php/cors/article/view/134/319
7. Belhassen B. Quinidine vs. ICD in patients with short-coupled idiopathic ventricular fibrillation: a call for a multicenter randomized trial. Eur Heart J. 2021;42(38):3992. DOI: https://doi.org/10.1093/eurheartj/ehab549
8. Steinberg C, Krahn AD. Quinidine vs. ICD therapy in short-coupled ventricular fibrillation-is a randomized trial the next logical step? Eur Heart J. 2021;42(38):3993-4. DOI: https://doi.org/10.1093/eurheartj/ehab614
9. Belhassen B, Shauer A. Nine reasons for performing an electrophysiology study in patients with apparently idiopathic ventricular fibrillation. Heart Rhythm. 2022;19(7):1212-3. DOI: https://doi.org/10.1016/j.hrthm.2022.03.010
10. Postema PG, Christiaans I, Hofman N, Alders M, Koopmann TT, Bezzina CR, et al. Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6. Neth Heart J. 2011;19(6):290-6. DOI: https://doi.org/10.1007/s12471-011-0102-8
11. Leenhardt A, Glaser E, Burguera M, Nürnberg M, Maison-Blanche P, Coumel P. Short-coupled variant of torsade de pointes. A new electrocardiographic entity in the spectrum of idiopathic ventricular tachyarrhythmias. Circulation. 1994;89(1):206-15. DOI: https://doi.org/10.1161/01.cir.89.1.206
12. Dorantes M, Marrero R, Méndez A, Castro J, Vázquez A. Historia familiar de muerte súbita por fibrilación ventricular idiopática. Arch Cardiol Mex. 2014;84(1):57-9. DOI: https://doi.org/10.1016/j.acmx.2013.05.007
Downloads
How to Cite
Issue
Section
License
Authors who publish with this journal agree to the following terms:- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
