title: [Molecular genetic diagnostics of the cause of ventricular arrhythmias in children].
abstract: Andersen-Tawil syndrome (ATS) is a rare hereditary multi--system 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.
authors.affiliation: anders.kragh@clin.au.dk.
authors.forename: Anders Krogh
authors.initials: AK
authors.lastname: Brøndberg
authors.forename: Jesper Vandborg
authors.initials: JV
authors.lastname: Bjerre
authors.forename: Jens Cosedis
authors.initials: JC
authors.lastname: Nielsen
authors.forename: Henrik Kjærulf
authors.initials: HK
authors.lastname: Jensen
mesh_terms: D000293:Adolescent; D050030:Andersen Syndrome / Q000175:diagnosis*; D002648:Child; D004562:Electrocardiography; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D017180:Tachycardia, Ventricular / Q000188:drug therapy / Q000235:genetics*; D018879:Ventricular Premature Complexes / Q000188:drug therapy / Q000235:genetics*
chemical_list: C489457:KCNJ2 protein, human; D024661:Potassium Channels, Inwardly Rectifying