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 |