Missense Variant E1295K of Sodium Channel SCN5A Associated With Recurrent Ventricular Fibrillation and Myocardial Inflammation

SCN5A was considered an exclusively cardiac expressed ion channel but discovered to also act as a novel innate immune sensor. We report on a young SCN5A variant carrier with recurrent ventricular fibrillation and massive myocardial inflammation whose peculiar clinical course is highly suggestive of...

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Autores principales: Poller, Wolfgang, Escher, Felicitas, Haas, Jan, Heidecker, Bettina, Schultheiss, Heinz-Peter, Attanasio, Philipp, Skurk, Carsten, Haghikia, Arash, Meder, Benjamin, Klaassen, Sabine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8897185/
https://www.ncbi.nlm.nih.gov/pubmed/35257103
http://dx.doi.org/10.1016/j.jaccas.2022.01.016
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author Poller, Wolfgang
Escher, Felicitas
Haas, Jan
Heidecker, Bettina
Schultheiss, Heinz-Peter
Attanasio, Philipp
Skurk, Carsten
Haghikia, Arash
Meder, Benjamin
Klaassen, Sabine
author_facet Poller, Wolfgang
Escher, Felicitas
Haas, Jan
Heidecker, Bettina
Schultheiss, Heinz-Peter
Attanasio, Philipp
Skurk, Carsten
Haghikia, Arash
Meder, Benjamin
Klaassen, Sabine
author_sort Poller, Wolfgang
collection PubMed
description SCN5A was considered an exclusively cardiac expressed ion channel but discovered to also act as a novel innate immune sensor. We report on a young SCN5A variant carrier with recurrent ventricular fibrillation and massive myocardial inflammation whose peculiar clinical course is highly suggestive of such a dual role of SCN5A. (Level of Difficulty: Advanced.)
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spelling pubmed-88971852022-03-06 Missense Variant E1295K of Sodium Channel SCN5A Associated With Recurrent Ventricular Fibrillation and Myocardial Inflammation Poller, Wolfgang Escher, Felicitas Haas, Jan Heidecker, Bettina Schultheiss, Heinz-Peter Attanasio, Philipp Skurk, Carsten Haghikia, Arash Meder, Benjamin Klaassen, Sabine JACC Case Rep Case Report SCN5A was considered an exclusively cardiac expressed ion channel but discovered to also act as a novel innate immune sensor. We report on a young SCN5A variant carrier with recurrent ventricular fibrillation and massive myocardial inflammation whose peculiar clinical course is highly suggestive of such a dual role of SCN5A. (Level of Difficulty: Advanced.) Elsevier 2022-03-02 /pmc/articles/PMC8897185/ /pubmed/35257103 http://dx.doi.org/10.1016/j.jaccas.2022.01.016 Text en © 2022 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Poller, Wolfgang
Escher, Felicitas
Haas, Jan
Heidecker, Bettina
Schultheiss, Heinz-Peter
Attanasio, Philipp
Skurk, Carsten
Haghikia, Arash
Meder, Benjamin
Klaassen, Sabine
Missense Variant E1295K of Sodium Channel SCN5A Associated With Recurrent Ventricular Fibrillation and Myocardial Inflammation
title Missense Variant E1295K of Sodium Channel SCN5A Associated With Recurrent Ventricular Fibrillation and Myocardial Inflammation
title_full Missense Variant E1295K of Sodium Channel SCN5A Associated With Recurrent Ventricular Fibrillation and Myocardial Inflammation
title_fullStr Missense Variant E1295K of Sodium Channel SCN5A Associated With Recurrent Ventricular Fibrillation and Myocardial Inflammation
title_full_unstemmed Missense Variant E1295K of Sodium Channel SCN5A Associated With Recurrent Ventricular Fibrillation and Myocardial Inflammation
title_short Missense Variant E1295K of Sodium Channel SCN5A Associated With Recurrent Ventricular Fibrillation and Myocardial Inflammation
title_sort missense variant e1295k of sodium channel scn5a associated with recurrent ventricular fibrillation and myocardial inflammation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8897185/
https://www.ncbi.nlm.nih.gov/pubmed/35257103
http://dx.doi.org/10.1016/j.jaccas.2022.01.016
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