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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Detalles Bibliográficos
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
Descripción
Sumario: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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