Missense Variant E1295K of Sodium Channel SCN5A Associated With Recurrent Ventricular Fibrillation and Myocardial Inflammation
Wolfgang Poller, Felicitas Escher, Jan Haas, Bettina Heidecker, Heinz‐Peter Schultheiß, Philipp Attanasio, Carsten Skurk, Arash Haghikia, Benjamin Meder, Sabine Klaassen
Abstract
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.)
Topics & Concepts
Ventricular fibrillationInternal medicineInflammationCardiologyMedicineMissense mutationSodium channelSodiumMutationBiologyChemistryGeneticsOrganic chemistryGeneViral Infections and Immunology ResearchIon channel regulation and functionCardiac electrophysiology and arrhythmias