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KCNJ2 mutation in intractable ventricular arrhythmia with Andersen's syndrome

Andersen’s syndrome is a rare disorder with characteristic clinical manifestations that include periodic paralysis, ventricular tachyarrhythmia and dysmorphic features, but expression of these phenotypes is variable. 1,2 Andersen’s syndrome is inherited in an autosomal dominant fashion, although many cases are sporadic. It was recently shown that Andersen’s syndrome is the result of mutations in inward rectifying potassium channel Kir2.1. 3 We report a patient with intractable ventricular arrhythmia and periodic paralysis with heterozygous mutation in KCNJ2 gene, which encodes the cardiac Kir2.1, who was treated with nicorandil and cardiac pacing with favorable effect.