Key result
SCN5A mutations link to underlying atrial cardiomyopathy unmasked by atrial flutter.
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Design
Case_report
SCN5A mutations link diverse phenotypes; leaves open genotype-phenotype precision and targeted therapies.
The SCN5A gene encodes the voltage-gated sodium channel Nav1.5. Mutations in SCN5A are associated with various cardiac disorders, including Long QT syndrome type 3, Brugada syndrome, sick sinus syndrome, atrial fibrillation, progressive conduction system disease, multifocal ectopic Purkinje-related premature contractions and dilated cardiomyopathy(1).
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Küpper et al. (2026) studied this question. SCN5A mutations are associated with multiple cardiac disorders, including an underlying atrial cardiomyopathy that can be clinically unmasked by atrial flutter.
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