title: KCNJ2 variant of unknown significance reclassified as long QT syndrome causing ventricular fibrillation.
abstract: KCNJ2 is the only gene implicated in Andersen-Tawil syndrome. Sudden cardiac arrest is rare in Andersen-Tawil syndrome. However, sudden cardiac arrest is often the index presentation in other forms of long QT syndrome. We present an unreported variant in the KCNJ2 gene, associated with long QT syndrome, that presented with ventricular fibrillation. Exercise testing and adrenaline infusion were useful in assigning pathogenicity to this variant of unknown significance.
authors.affiliation: University of Western Ontario, Division of Cardiology, London, Ontario, Canada.
authors.forename: Manoj N
authors.initials: MN
authors.lastname: Obeyesekere
authors.forename: George J
authors.initials: GJ
authors.lastname: Klein
authors.forename: Susan
authors.initials: S
authors.lastname: Conacher
authors.forename: Andrew D
authors.initials: AD
authors.lastname: Krahn
mesh_terms: D050030:Andersen Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004452:Echocardiography; D015716:Electrocardiography, Ambulatory; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics* / Q000378:metabolism; D014693:Ventricular Fibrillation / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics
chemical_list: C489457:KCNJ2 protein, human; D024661:Potassium Channels, Inwardly Rectifying; D004247:DNA