Missense Variant E1295K of Sodium Channel SCN5A Associated With Recurrent Ventricular Fibrillation and Myocardial Inflammation.
JACC Case Rep
; 4(5): 280-286, 2022 Mar 02.
Article
em En
| MEDLINE
| ID: mdl-35257103
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.).
CAD, coronary artery disease; CMP, cardiomyopathy; DCM, dilated cardiomyopathy; EMB, endomyocardial biopsy; LV, left ventricle; LVEF, left ventricular ejection fraction; LVMi, left ventricular mass index; MRI, magnetic resonance imaging; PBMC, peripheral blood mononuclear cells; PCR, polymerase chain reaction; RT-PCR, reverse transcriptase polymerase chain reaction; SCD, sudden cardiac death; SCN5A, sodium voltage-gated channel alpha subunit 5; VES, ventricular extrasystole; VF, ventricular fibrillation; VT, ventricular tachycardia; inflammation; innate immune response; ion channel diseases; ion channel functions; variant screening
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MEDLINE
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2022
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Article