A leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy.

ABSTRACT: Dilated cardiomyopathy (DCM) is a structural heart disease that causes dilatation of cardiac chambers and impairs cardiac contractility. The SCN5A gene encodes Na_v1.5, the predominant cardiac sodium channel alpha subunit. SCN5A mutations have been identified in patients with arrhythmic disorders associated with DCM. The characterization of Na_v1.5 mutations located in the voltage sensor domain (VSD) and associated with DCM revealed divergent biophysical defects that do not fully explain the pathologies observed in these patients. The purpose of this study was to characterize the pathological consequences of a gating pore in the heart arising from the Na_v1.5/R219H mutation in a patient with complex cardiac arrhythmias and DCM. We report its properties using c

SUBMITTER: Moreau A 

PROVIDER: S-EPMC6138662 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature