Key result
The SCN4A R1448C mutation in patients with Paramyotonia congenita is associated with repolarization abnormalities on electrocardiogram.
Case Report (n=5)
Patients with Paramyotonia congenita and SCN4A mutations may exhibit cardiac repolarization abnormalities and could be at risk for arrhythmias if treated with QT-prolonging drugs.
May warrant ECG review before QT-prolonging drugs in paramyotonia congenita; leaves open SCN4A arrhythmia risk.
Paramyotonia congenita (PC) is linked to mutations of the skeletal muscle voltage-gated sodium channel alpha-subunit gene SCN4A. The authors report a family where the proband and three of her four children have PC (mutation R1448C) and present repolarization abnormalities at electrocardiogram. They demonstrate that the SCN4A alpha-subunit gene is expressed in normal human heart. Cardiac consequences of mutations of the SCN4A gene may be insignificant in standard conditions, but critical if patients with PC are treated with drugs inducing QT prolongation.
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Péréon et al. (2003) conducted a case report in Paramyotonia congenita (n=5). SCN4A mutation (R1448C) was evaluated on Repolarization abnormalities at electrocardiogram. The SCN4A R1448C mutation in patients with Paramyotonia congenita is associated with repolarization abnormalities on electrocardiogram.
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