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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Autores principales: Benvenga, Rossella Maria, Polito, Maria Vincenza, Prota, Costantina, Dellegrottaglie, Santo, Ragosa, Nicola, D’Arco, Gianpaolo, Ducceschi, Valentino, Aloia, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8893112/
https://www.ncbi.nlm.nih.gov/pubmed/35284224
http://dx.doi.org/10.4103/jcecho.jcecho_66_21
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author Benvenga, Rossella Maria
Polito, Maria Vincenza
Prota, Costantina
Dellegrottaglie, Santo
Ragosa, Nicola
D’Arco, Gianpaolo
Ducceschi, Valentino
Aloia, Antonio
author_facet Benvenga, Rossella Maria
Polito, Maria Vincenza
Prota, Costantina
Dellegrottaglie, Santo
Ragosa, Nicola
D’Arco, Gianpaolo
Ducceschi, Valentino
Aloia, Antonio
author_sort Benvenga, Rossella Maria
collection PubMed
description 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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spelling pubmed-88931122022-03-10 A New SCN5A Variant in a Patient with Idiopathic Ventricular Fibrillation: The Dark Side of Cardiac Imaging Benvenga, Rossella Maria Polito, Maria Vincenza Prota, Costantina Dellegrottaglie, Santo Ragosa, Nicola D’Arco, Gianpaolo Ducceschi, Valentino Aloia, Antonio J Cardiovasc Echogr Case Report 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. Wolters Kluwer - Medknow 2021 2022-01-24 /pmc/articles/PMC8893112/ /pubmed/35284224 http://dx.doi.org/10.4103/jcecho.jcecho_66_21 Text en Copyright: © 2022 Journal of Cardiovascular Echography https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Benvenga, Rossella Maria
Polito, Maria Vincenza
Prota, Costantina
Dellegrottaglie, Santo
Ragosa, Nicola
D’Arco, Gianpaolo
Ducceschi, Valentino
Aloia, Antonio
A New SCN5A Variant in a Patient with Idiopathic Ventricular Fibrillation: The Dark Side of Cardiac Imaging
title A New SCN5A Variant in a Patient with Idiopathic Ventricular Fibrillation: The Dark Side of Cardiac Imaging
title_full A New SCN5A Variant in a Patient with Idiopathic Ventricular Fibrillation: The Dark Side of Cardiac Imaging
title_fullStr A New SCN5A Variant in a Patient with Idiopathic Ventricular Fibrillation: The Dark Side of Cardiac Imaging
title_full_unstemmed A New SCN5A Variant in a Patient with Idiopathic Ventricular Fibrillation: The Dark Side of Cardiac Imaging
title_short A New SCN5A Variant in a Patient with Idiopathic Ventricular Fibrillation: The Dark Side of Cardiac Imaging
title_sort new scn5a variant in a patient with idiopathic ventricular fibrillation: the dark side of cardiac imaging
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8893112/
https://www.ncbi.nlm.nih.gov/pubmed/35284224
http://dx.doi.org/10.4103/jcecho.jcecho_66_21
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