The yield of a comprehensive investigation protocol for the diagnosis of true idiopathic ventricular fibrillation in a real-life clinical setting
Language English Country England, Great Britain Media electronic
Document type Journal Article
Grant support
NU22-02-00348
Ministry of Health of the Czech Republic
FNBr. 65269705
Ministry of Health of the Czech Republic - DRO
PubMed
38890420
PubMed Central
PMC11189413
DOI
10.1038/s41598-024-64513-7
PII: 10.1038/s41598-024-64513-7
Knihovny.cz E-resources
- MeSH
- Adult MeSH
- Echocardiography MeSH
- Ventricular Fibrillation * diagnosis MeSH
- Genetic Testing methods MeSH
- Middle Aged MeSH
- Humans MeSH
- Magnetic Resonance Imaging methods MeSH
- Aged MeSH
- Exercise Test MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Traditionally, aborted cardiac arrest (ACA) due to documented ventricular fibrillation (VF) in the absence of structural heart disease has been termed idiopathic VF. By careful evaluation, a specific etiology can be found in a substantial proportion of patients. The aim of this survey was to assess the yield of an advanced diagnostic work-up to reveal a causative etiology in a real-life clinical setting. Patients from the University Hospital Brno's ACA database were analyzed (514 patients in total). Forty-six patients (31 males) fulfilled the inclusion criteria, which were: (1) absence of structural pathology on echocardiography; (2) absence of coronary artery disease; and (3) absence of reversible cause of ACA. The diagnostic work-up consisted in cardiac magnetic resonance imaging, stress testing, sodium channel blocker challenge, and genetic testing according to the availability of the method and patient compliance. A specific disease was found in 17 individuals (37.0%), although at least one diagnostic step was refused by 13 patients (28.3%). True idiopathic VF was confirmed in 7 patients (15.2%), for whom the entire diagnostic work-up did not reveal any specific pathology. Our real-life survey shows that, even with an incomplete diagnostic work-up (due to the unavailability of a particular method or variable patient compliance), a specific diagnosis can be identified in more than one third of the cases of "idiopathic" VF, which can thus enable targeted treatment and family screening.
See more in PubMed
Priori SG, et al. 2015 ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC) Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC) Eur. Heart J. 2015;36:2793–2867. doi: 10.1093/eurheartj/ehv316. PubMed DOI
Winkel BG, et al. Nationwide study of sudden cardiac death in persons aged 1–35 years. Eur. Heart J. 2011;32:983–990. doi: 10.1093/eurheartj/ehq428. PubMed DOI
Pilmer CM, Kirsh JA, Hildebrandt D, Krahn AD, Gow RM. Sudden cardiac death in children and adolescents between 1 and 19 years of age. Heart Rhythm. 2014;11:239–245. doi: 10.1016/j.hrthm.2013.11.006. PubMed DOI
Risgaard B, et al. Burden of sudden cardiac death in persons aged 1 to 49 years: Nationwide study in Denmark. Circ. Arrhythm. Electrophysiol. 2014;7:205–211. doi: 10.1161/CIRCEP.113.001421. PubMed DOI
Waldmann V, et al. Burden of coronary artery disease as a cause of sudden cardiac arrest in the young. J. Am. Coll. Cardiol. 2019;73:2118–2120. doi: 10.1016/j.jacc.2019.01.064. PubMed DOI
Waldmann V, et al. Low rates of immediate coronary angiography among young adults resuscitated from sudden cardiac arrest. Resuscitation. 2020;147:34–42. doi: 10.1016/j.resuscitation.2019.12.005. PubMed DOI
Bagnall RD, et al. A prospective study of sudden cardiac death among children and young adults. N. Engl. J. Med. 2016;374:2441–2452. doi: 10.1056/NEJMoa1510687. PubMed DOI
Winkel BG, et al. Sudden cardiac death in children (1–18 years): Symptoms and causes of death in a nationwide setting. Eur. Heart J. 2014;35:868–875. doi: 10.1093/eurheartj/eht509. PubMed DOI
Visser M, et al. Idiopathic ventricular fibrillation: The struggle for definition, diagnosis, and follow-up. Circ. Arrhythm. Electrophysiol. 2016;9:e003817. doi: 10.1161/CIRCEP.115.003817. PubMed DOI
Zeppenfeld K, et al. 2022 ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur. Heart J. 2022 doi: 10.1093/eurheartj/ehac262. PubMed DOI
Wilde AAM, 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. EP Eur. 2022;24:1307–1367. PubMed PMC
Richards S, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 2015;17:405–424. doi: 10.1038/gim.2015.30. PubMed DOI PMC
Meissner MD, et al. Ventricular fibrillation in patients without significant structural heart disease: A multicenter experience with implantable cardioverter-defibrillator therapy. J. Am. Coll. Cardiol. 1993;21:1406–1412. doi: 10.1016/0735-1097(93)90317-T. PubMed DOI
Krahn AD, et al. Systematic assessment of patients with unexplained cardiac arrest: Cardiac arrest survivors with preserved ejection fraction registry (CASPER) Circulation. 2009;120:278–285. doi: 10.1161/CIRCULATIONAHA.109.853143. PubMed DOI
van der Werf C, Wilde AAM. Why did this patient experience a sudden cardiac arrest? Follow your curiosity! Heart Rhythm. 2019;16:1240–1241. doi: 10.1016/j.hrthm.2019.02.028. PubMed DOI
Corrado D, et al. Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria. Int. J. Cardiol. 2020;319:106–114. doi: 10.1016/j.ijcard.2020.06.005. PubMed DOI
Zaman A, et al. Role of cardiac MRI imaging of focal and diffuse inflammation and fibrosis in cardiomyopathy patients who have pacemakers/ICD devices. Curr. Cardiol. Rep. 2022;24:1529–1536. doi: 10.1007/s11886-022-01770-w. PubMed DOI PMC
Giudicessi JR, Ackerman MJ. Exercise testing oversights underlie missed and delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia in young sudden cardiac arrest survivors. Heart Rhythm. 2019;16:1232–1239. doi: 10.1016/j.hrthm.2019.02.012. PubMed DOI
Andrsova I, et al. Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: Importance of exercise testing. J. Electrocardiol. 2012;45:746–751. doi: 10.1016/j.jelectrocard.2012.05.004. PubMed DOI
Andrsova I, et al. Clinical characteristics and mutational analysis of the RyR2 gene in seven Czech families with catecholaminergic polymorphic ventricular tachycardia. Pacing Clin. Electrophysiol. 2012;35:798–803. doi: 10.1111/j.1540-8159.2012.03399.x. PubMed DOI
Waldmann V, et al. Characteristics and clinical assessment of unexplained sudden cardiac arrest in the real-world setting: Focus on idiopathic ventricular fibrillation. Eur. Heart J. 2018;39:1981–1987. doi: 10.1093/eurheartj/ehy098. PubMed DOI PMC
Synková I, et al. Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation. Sci. Rep. 2021;11:3573. doi: 10.1038/s41598-021-81670-1. PubMed DOI PMC