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

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, resp...

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Veröffentlicht in:Journal of Cardiovascular Echography 2021-10, Vol.31 (4), p.242-245
Hauptverfasser: Benvenga, Rossella Maria, Polito, Maria Vincenza, Prota, Costantina, Dellegrottaglie, Santo, Ragosa, Nicola, D'Arco, Gianpaolo, Ducceschi, Valentino, Aloia, Antonio
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Sprache:eng
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Zusammenfassung: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.
ISSN:2211-4122
2347-193X
DOI:10.4103/jcecho.jcecho_66_21