Key result
Novel SCN5A nonsense mutation presents as SCN5A overlap syndrome.
Case Report
Describes a novel presentation of an SCN5A nonsense mutation as an overlap syndrome involving multiple electrical and structural cardiac disorders.
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Suggests SCN5A variant may underlie mixed electrical-structural phenotype in one case; leaves open validation and prevalence.
SCN5A is a gene with 28 exons encoding the pore-forming ion-conducting α-subunit of the cardiac voltage-gated sodium channel (Nav1.5).1,2 Nav1.5 enables the initiation and propagation of action potentials throughout the myocardium and determines cardiac excitability and electrical conduction.3 Various SCN5A mutations have been associated with electrical disorders and equally important structural diseases of the heart: long QT syndrome (LQTS), Brugada syndrome (BrS), isolated conduction defect (Lev-Lenègre syndrome), multifocal ectopic Purkinje-related premature contractions, sick sinus syndrome, atrial fibrillation, and dilated cardiomyopathy.
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Ahn et al. (2021) conducted a case report in SCN5A overlap syndrome. SCN5A nonsense mutation was evaluated. A novel presentation of an SCN5A nonsense mutation was described as SCN5A overlap syndrome.
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