Author/Editor     Šinkovec, Matjaž; Marn-Pernat, Andreja; Jan, Matevž; Antolič, Bor; Kovač, Jernej; Trebušak Podkrajšek, Katarina; Debeljak, Maruša
Title     Nova mutacija kanalčka KCNJ2 pri bolnici s sindromom Andersen-Tawil
Translated title     Novel KCNJ2 mutation associated with Andersen-Tawil syndrome
Type     članek
Vol. and No.     Letnik 82, št. 1
Publication year     2013
Volume     str. 55-60
ISSN     1581-0224 - Zdravniški vestnik
Language     slv
Abstract     Andersen-Tawil syndrome (ATS) is a rare inherited or sporadic disorder characterized by ventricular arrhythmias, characteristic QT-U wave patterns inelectrocardiogram, periodic paralysis, and dysmorphic features. We describe a patient of Slovenian origin who exhibited mild dysmorphic features, repetitive bidirectional and monomorphic ventricular tachycardias, and characteristic QT-U wave patterns. Ventricular arrhythmias persisted despite several catheter ablation procedures and different anti- -arrhythmic drug treatments, resulting only in pacemaker implantation and amiodarone toxicity. Cardioverter-defibrillator was implanted after a major syncopal attack. Finally, molecular genetic screening revealed a novel heterozygous mutation (c.424A>C/p. Thr142Pro) in KCNJ2 gene consistent with the ATS.
Descriptors     Anesthesia, Closed-Circuit
Instrumentation
Methods
Keywords     bidirekcijska prekatna tahikardija
genetska napaka
Andersen-Tawilov sindrom
mutacija KCNJ2
katetrska ablacija