Why the study?
AF and AFL in individuals younger than 45 years without obvious risk factors may have a genetic predisposition, such as pleiotropic SCN5A mutations associated with multiple cardiac arrhythmias.
SCN5A mutations can present with pleiotropic arrhythmogenic effects in young patients, requiring a comprehensive approach to multiple arrhythmias.
Prompts comprehensive arrhythmia assessment in SCN5A carriers; leaves open broader phenotypic correlations.
Atrial fibrillation (AF) and atrial flutter (AFL) may be associated with a genetic predisposition, particularly in people younger than 45 years without obvious risk factors.1,2 In such cases, genetic testing may be considered to identify potential underlying genetic causes.1 It has been demonstrated that mutations in SCN5A, the gene encoding the α subunit of the human cardiac sodium channel (Nav1.5), may have pleiotropic effects, including risk of AF and AFL, but also Brugada syndrome (BrS), type 3 long QT syndrome, progressive cardiac conduction disease (PCCD), sick sinus syndrome (SSS), atrial standstill, sudden cardiac arrest (SCA), sudden infant death syndrome, and dilated and arrhythmogenic cardiomyopathy.
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Müssigbrodt et al. (2025) studied this question.
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