ArticleEuropace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology2023
The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview.
Article in Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 14 citations in OpenAlex.
- Idiopathic Ventricular Fibrillation Triggered by Purkinje-Related Extrasystoles: State-of-the-Art and Novel Therapeutic Approaches.Journal of cardiovascular electrophysiology · 2026Review
- Cardiac Arrest as the First Manifestation of Single Coronary Artery-Potential Role of FFRClinical case reports · 2026Article
- Diagnostic Evolution From Channelopathy to Idiopathic Ventricular Fibrillation After Aborted Sudden Cardiac Death.JACC. Case reports · 2026Article
- Identification and functional assessment of a KCNH2 compound heterozygosity in a patient with presumed idiopathic ventricular fibrillation ascertains the diagnosis of long QT syndrome type 2.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2026Article
- Distinct patterns of ventricular fibrillation onset in primary electrical diseases: insights from a retrospective multicentre registry.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2025Article
- Diagnostic, pharmacological, and ablation approaches for idiopathic ventricular fibrillation: the 2024 European Heart Rhythm Association survey.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2025Article
- Analysis ofCirculation. Genomic and precision medicine · 2025Article
- Genetics in arrhythmogenic cardiomyopathies: where are we now and where are we heading to?European heart journal supplements : journal of the European Society of Cardiology · 2025Article
- Idiopathic Ventricular Fibrillation: Substrates, Mechanisms and Treatment.Arrhythmia & electrophysiology review · 2025Review
- Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.American journal of human genetics · 2024Article
- Genetic testing in early-onset atrial fibrillation.European heart journal · 2024Review
- Idiopathic Ventricular Fibrillation - Just How Much Idiopathic is it?Reviews in cardiovascular medicine · 2024Review
- New Frontiers in Electrocardiography, Cardiac Arrhythmias, and Arrhythmogenic Disorders.Journal of clinical medicine · 2024Article
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Authors and funding
20 authors at 11 institutions in 2 countries.
Funding
Abstract
aimsDuring the diagnostic work-up of patients with idiopathic ventricular fibrillation (VF), next-generation sequencing panels can be considered to identify genotypes associated with arrhythmias. However, consensus for gene panel testing is still lacking, and variants of uncertain significance (VUS) are often identified. The aim of this study was to evaluate genetic testing and its results in idiopathic VF patients. METHODS AND
resultsWe investigated 419 patients with available medical records from the Dutch Idiopathic VF Registry. Genetic testing was performed in 379 (91%) patients [median age at event 39 years (27-51), 60% male]. Single-gene testing was performed in 87 patients (23%) and was initiated more often in patients with idiopathic VF before 2010. Panel testing was performed in 292 patients (77%). The majority of causal (likely) pathogenic variants (LP/P, n = 56, 15%) entailed the DPP6 risk haplotype (n = 39, 70%). Moreover, 10 LP/P variants were found in cardiomyopathy genes (FLNC, MYL2, MYH7, PLN (two), TTN (four), RBM20), and 7 LP/P variants were identified in genes associated with cardiac arrhythmias (KCNQ1, SCN5A (2), RYR2 (four)). For eight patients (2%), identification of an LP/P variant resulted in a change of diagnosis. In 113 patients (30%), a VUS was identified. Broad panel testing resulted in a higher incidence of VUS in comparison to single-gene testing (38% vs. 3%, P < 0.001).
conclusionAlmost all patients from the registry underwent, albeit not broad, genetic testing. The genetic yield of causal LP/P variants in idiopathic VF patients is 5%, increasing to 15% when including DPP6. In specific cases, the LP/P variant is the underlying diagnosis. A gene panel specifically for idiopathic VF patients is proposed.
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