Key result
Novel SCN5A variant outside the Nav1.5 voltage-sensing domain causes multifocal ectopic Purkinje-related premature contractions.
Identifies a novel SCN5A variant outside the voltage-sensing domain responsible for multifocal ectopic Purkinje-related premature contractions.
Hypothesis-generating for SCN5A variants outside the VSD in MEPPC; larger cohorts needed before clinical adoption.
Pathogenic variants in the SCN5A-encoded pore-forming α-subunit of the Nav1.5 voltage-gated cardiac sodium channel are associated with primary arrhythmia syndromes including type 3 long QT syndrome (LQT3; Nav1.5 gain-of-function), Brugada syndrome (BrS; Nav1.5 loss-of-function), early-onset atrial fibrillation (AF; Nav1.5 loss- and gain-of-function), primary cardiac conduction disease (Nav1.5 loss-of-function), dilated cardiomyopathy (DCM; Nav1.5 loss- and gain-of-function), and overlap syndromes, whereby the clinical hallmark(s) of more than 1 disorder is observed with the same patient and/or family.
No takes yet. Share an insight, caveat, or question.
Gao et al. (2021) studied Multifocal ectopic Purkinje-related premature contractions. A novel functional variant residing outside the SCN5A-encoded Nav1.5 voltage-sensing domain was identified as the cause of multifocal ectopic Purkinje-related premature contractions.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: