Avtor/Urednik		Šinkovec, Matjaž; Marn-Pernat, Andreja; Jan, Matevž; Antolič, Bor; Kovač, Jernej; Trebušak Podkrajšek, Katarina; Debeljak, Maruša
Naslov		Nova mutacija kanalčka KCNJ2 pri bolnici s sindromom Andersen-Tawil
Prevedeni naslov		Novel KCNJ2 mutation associated with Andersen-Tawil syndrome
Tip		članek
Vol. in št.		Letnik 82, št. 1
Leto izdaje		2013
Obseg		str. 55-60
ISSN		1581-0224 - Zdravniški vestnik
Jezik		slv
Abstrakt		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.
Deskriptorji		Anesthesia, Closed-Circuit Instrumentation Methods
Proste vsebinske oznake		bidirekcijska prekatna tahikardija genetska napaka Andersen-Tawilov sindrom mutacija KCNJ2 katetrska ablacija