Abstract 130 Arrhythmia-related genetic variants in patients with focally triggered ventricular fibrillation storm

Clin Res Cardiol (2021) DOI DOI https://doi.org/10.1007/s00392-021-01843-w
Arrhythmia-related genetic variants in patients with focally triggered ventricular fibrillation storm
C. Reithmann¹, M. Fiek¹, M. Ulbrich¹, M. Hinterseer²
¹Medizinische Klinik I, Kardiologie, Helios Klinikum München West, München; ²Herzzentrum Füssen-Außerfern, Kreiskliniken Ostallgäu, Füssen;
Background: The aim of the study was to evaluate the role of arrhythmia-related genetic variants in focally triggered ventricular fibrillation (VF) storm. Methods: 11 patients with focally triggered VF storm and 20 patients with frequent ventricular extrasystoles (VES) associated with recurrent syncope (n = 8) or left ventricular dysfunction (n = 12) underwent focal ablation and testing for arrhythmia-related genetic variants. Classification of variants was performed according to the pathogenicity criteria from the American College of Medical Genetics and Genomics. Results: Among the 11 patients with VF storm, 2 had extrasystole-induced cardiomyopathy, 2 had non-ischemic cardiomyopathy, 4 had no structural heart disease and 3 had myocardial ischemia or prior myocardial infarction. Genetic testing revealed likely pathogenic variants in 3 patients (SCN5A, PKP2 and RYR2 gene), variants of uncertain significance (VUS) in 3 patients (CAV3, HCN4 and CACNB2 gene) and likely benign polymorphisms in homozygous form in 2 patients (SCN5A and KCNE1 gene). Foci triggering recurrent VF were successfully ablated in the right ventricular outflow tract in 2 and the Purkinje network of the left posterior fascicle in 6 patients. Among the 20 patients with frequent VES without VF, VUS or likely benign variants were found in 3 patients (KCNJ2, n = 1; SNC5A gene, n = 2). Conclusion: Variants in disease genes for inherited arrhythmia syndromes were found in a substantial propotion of patients with focally triggered VF storm and may contribute to the risk of VF storm in the context of cardiomyopathies and myocardial ischemia.
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