Ugeskr Læger 2015;177:V04150366
Molecular genetic diagnostics of the cause of ventricular arrhythmias in children
Andersen-Tawil syndrome (ATS) is a rare hereditary multisystem disorder consisting of a triad of symptoms, ventricular arrhythmias, periodic paralysis and dysmorphic features. The syndrome is associated with a loss of function mutation in the gene KCNJ2, which encodes the Kir2.1 inward rectifier potassium channel. We represent a case story of a 15-year-old girl who had unexplained arrhythmias for six years. Molecular genetic screening with a 75-heart-panel revealed a pathogenic KCNJ2 missense mutation. The patient was diagnosed with ATS.