18 KB236 KB17 KB192920262013Antolič, BorDebeljak, MarušaJan, MatevžKovač, JernejPernat, AndrejŠinkovec, MatjažTrebušak Podkrajšek, Katarinaštevilka:1letnik:82str. 55-60ISSN:1318-0347COBISSID:740524URN:URN:NBN:SI:doc-JPZFOJ85enSlovensko zdravniško društvoZdravniški vestnikAndersen-Tawilov sindromAnesthesia, Closed-Circuitbidirekcijska prekatna tahikardijagenetska napakaInstrumentationkatetrska ablacijaMethodsmutacija KCNJ2Novel KCNJ2 mutation associated with Andersen-Tawil syndrome| Nova mutacija kanalčka KCNJ2 pri bolnici s sindromom Andersen-Tawil|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 ATSTEXTznanstveno časopisjejournalsSlovenian National E-content AggregatorNational and University Library of SloveniaSlovensko zdravniško društvo