[QTU pattern in a patient with the Anderson-Tawil syndrome].
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.
Ciurzyński
Michał
M
Klinika Chorób Wewnetrznych i Kardiologii, Warszawski Uniwersytet Medyczny, Warszawa. michal.ciurzynski@wum.edu.pl
Bienias
Piotr
P
Kostera-Pruszczyk
Anna
A
Pruszczyk
Piotr
P
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
C489457:KCNJ2 protein, human; D024661:Potassium Channels, Inwardly Rectifying