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) through the cardiomyocytes, was found. A likely pathogenic effect of this gene variant was hypothesized.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8893112PMC
http://dx.doi.org/10.4103/jcecho.jcecho_66_21DOI Listing

Publication Analysis

Top Keywords

ventricular fibrillation
8
scn5a variant
4
variant patient
4
patient idiopathic
4
idiopathic ventricular
4
fibrillation dark
4
dark side
4
side cardiac
4
cardiac imaging
4
imaging case
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!