Key result
A novel SCN5A variant (c.6023C>T p.Pro2008Leu) was identified in a patient with recurrent idiopathic ventricular fibrillation and normal cardiac imaging, suggesting a likely pathogenic effect.
Case Report (n=1)
No
This case report identifies a novel SCN5A variant (c.6023C>T p.Pro2008Leu) in a patient with idiopathic ventricular fibrillation, highlighting the potential role of genetic testing when structural imaging is normal.
Should not yet change practice in idiopathic VF; leaves open pathogenicity of this SCN5A variant.
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.
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Benvenga et al. (2021) conducted a case report in Idiopathic ventricular fibrillation (n=1). SCN5A variant c.6023C>T p.Pro2008Leu was evaluated. A novel SCN5A variant (c.6023C>T p.Pro2008Leu) was identified in a patient with recurrent idiopathic ventricular fibrillation and normal cardiac imaging, suggesting a likely pathogenic effect.
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