A New SCN5A Variant in a Patient with Idiopathic Ventricular Fibrillation: The Dark Side of Cardiac Imaging.

Autor: Benvenga RM; Division of Cardiology, Presidio Ospedaliero San Luca, Vallo della Lucania, Acerra, Naples, Italy., Polito MV; Division of Cardiology, Ospedale Evangelico Betania, Acerra, Naples, Italy., Prota C; Division of Cardiology, Presidio Ospedaliero San Luca, Vallo della Lucania, Acerra, Naples, Italy., Dellegrottaglie S; Division of Cardiology, Ospedale Accreditato Villa dei Fiori, Acerra, Naples, Italy., Ragosa N; Division of Cardiology, Presidio Ospedaliero San Luca, Vallo della Lucania, Acerra, Naples, Italy., D'Arco G; Department of Emergency, Azienda Ospedaliera Universitaria Senese, 'Santa Maria alle Scotte' General Hospital, Siena, Italy., Ducceschi V; Division of Cardiology, Presidio Ospedaliero San Luca, Vallo della Lucania, Acerra, Naples, Italy., Aloia A; Division of Cardiology, Presidio Ospedaliero San Luca, Vallo della Lucania, Acerra, Naples, Italy.
Jazyk: angličtina
Zdroj: Journal of cardiovascular echography [J Cardiovasc Echogr] 2021 Oct-Dec; Vol. 31 (4), pp. 242-245. Date of Electronic Publication: 2022 Jan 24.
DOI: 10.4103/jcecho.jcecho_66_21
Abstrakt: We present the case of a patient with recurrent episodes of ventricular fibrillation without evidence of structural cardiac diseases on imaging techniques and negative genetic testing for the most common primary arrhythmia syndromes. A new variant c.6023C>T p.Pro2008Leu of the SCN5A protein, responsible for the sodium inward current (I Na ) through the cardiomyocytes, was found. A likely pathogenic effect of this gene variant was hypothesized.
Competing Interests: There are no conflicts of interest.
(Copyright: © 2022 Journal of Cardiovascular Echography.)
Databáze: MEDLINE
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