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

Abstract

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.

Keywords: Cardiac imaging; SCN5A; genetic testing; sudden cardiac death; ventricular fibrillation.