Key result
SCN5A S910L mutation linked to progressive atrial fibrosis, partial standstill, and recurrent pacing failure.
Case Report (n=1)
No
This case provides the first histological evidence linking an SCN5A gene mutation (S910L) to active, progressive atrial myocardial fibrosis in a pediatric patient with atrial standstill.
Should not change practice; extends SCN5A-atrial fibrosis link in pediatrics but remains hypothesis-generating.
Atrial standstill (AS) is a rare cardiac syndrome characterized by the absence of electrical and mechanical activity in the atria. Mutations in the sodium channel α-subunit SCN5A gene have been identified as the cause of arrhythmia syndromes, such as long QT syndrome, Brugada syndrome (BrS), progressive cardiac conduction disease, sinus node dysfunction, atrial fibrillation, and AS.1 Historically, these cardiac sodium channelopathies were considered to be purely electrical disorders. However, with the accumulation of cases, SCN5A mutations also came to be associated with structural disorders involving myocardial fibrosis.
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Kato et al. (2022) conducted a case report in Atrial standstill and progressive atrial myocardial fibrosis associated with an SCN5A gene mutation (n=1). SCN5A missense mutation S910L (c.2729c>t) and epicardial pacemaker implantation was evaluated on Histological atrial findings and long-term clinical pacing outcomes. An SCN5A missense mutation (S910L) in a 4-year-old girl was associated with partial atrial standstill, active progressive atrial fibrosis, and transient atrial pacing failure over 7 years.
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