Flecainide is identified as a potential treatment for a novel KCNJ2 mutation associated with Andersen-Tawil syndrome.
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May broaden KCNJ2 phenotypic spectrum in inherited arrhythmias; leaves open functional validation and clinical implications.
KCNJ2 encodes for the potassium inward rectifier channel protein Kir2.1, and mutations in KCNJ2 are associated with various inherited arrhythmia syndromes, such as Andersen-Tawil syndrome type 1 (ATS1), short QT syndrome 3, familial atrial fibrillation, and catecholaminergic polymorphic ventricular tachycardia 3.1–5 ATS1 is an autosomal dominant inherited disease with a multisystem phenotype consisting of periodic paralysis, ventricular arrhythmias, and craniofacial dysmorphic features.6 Ventricular arrhythmias can include frequent ventricular ectopy, bigeminy, polymorphic ventricular tachycardia (VT), and, less commonly, bidirectional VT.
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Ert et al. (2016) studied this question.
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