title: [QTU pattern in a patient with the Anderson-Tawil syndrome].
abstract: The Andersen-Tawil syndrome (ATS) is an autosomal dominant or sporadic disorder characterised by periodic paralysis, cardiac arrhythmias and dysmorphic features. Mutations in KCNJ2, which encodes the inward rectifier K+ channel Kir2.1 can be found in approximately 70% of ATS cases. The genetic mechanism in the remaining 30% of patients is still unknown. We present ECG of a 19-year-old man with the Andersen-Tawil syndrome. The standard ECG revealed prominent U wave with the ATS TU pattern.
authors.affiliation: Klinika Chorób Wewnetrznych i Kardiologii, Warszawski Uniwersytet Medyczny, Warszawa. michal.ciurzynski@wum.edu.pl
authors.forename: Michał
authors.initials: M
authors.lastname: Ciurzyński
authors.forename: Piotr
authors.initials: P
authors.lastname: Bienias
authors.forename: Anna
authors.initials: A
authors.lastname: Kostera-Pruszczyk
authors.forename: Piotr
authors.initials: P
authors.lastname: Pruszczyk
mesh_terms: D000328:Adult; D050030:Andersen Syndrome / Q000175:diagnosis* / Q000235:genetics; D004562:Electrocardiography; D006801:Humans; D008297:Male; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying; D055815:Young Adult
chemical_list: C489457:KCNJ2 protein, human; D024661:Potassium Channels, Inwardly Rectifying