关键词: 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 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

来  源:   DOI:10.1016/j.jaccas.2022.01.016   PDF(Pubmed)

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.).
摘要:
SCN5A被认为是一种专门的心脏表达离子通道,但发现它也可以作为一种新型的先天性免疫传感器。我们报道了一种年轻的SCN5A变异携带者,其复发性心室纤颤和大量心肌炎症,其特殊的临床过程高度暗示了SCN5A的双重作用。(难度等级:高级。).
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