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Prevalence and prognostic impact of pathogenic variants in patients with dilated cardiomyopathy referred for ventricular tachycardia ablation

JACC: Clinical Electrophysiology Sep 25, 2020

Ebert M, Wijnmaalen AP, de Riva M, et al. - Since the prevalence of genetic variants related to monomorphic ventricular tachycardia (VT) in dilated cardiomyopathy (DCM) remains unknown, so, researchers undertook this study with DCM VT patients referred for CA, to determine the frequency of (likely) pathogenic variants (LP/Pv) in this patient population and their effect on procedural outcome as well as on long-term prognosis. This study involved 98 consecutive patients (age 56 ± 15 years) referred for DCM-VT ablation. Experts found LP/Pv in 37 (38%) patients, most commonly LMNATTNPLNSCN5A, RBM20 and DSP. Findings demonstrated that a genetic cause was frequently present in patients with DCM-VT. A lower left ventricular ejection fraction and more extensive VT substrates were observed in LP/Pv+ patients, which, together with disease progression, were suggested to be the likely contributor to the poor prognosis. Thus, genetic testing in patients with DCM-VT should be advised.

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