nova mutacija kanalčka kcnj2 pri bolnici s sindromom andersen-tawil

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ID: 232479
2013
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Abstract
Andersen-Tawil syndrome (ATS) is a rare inherited or sporadic disorder characterized by ventricular arrhythmias, characteristic QT-U wave patterns in electrocardiogram, 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 a 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.
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inkovec2013zdravnikinova Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Matjaž Šinkovec;Andrej Pernat;Matevž Jan;Bor Antolič;Jernej Kovač;Katarina Trebušak Podkrajšek;Maruša Debeljak
Journal planta medica
Year 2013
DOI
DOI not found
URL
http://vestnik.szd.si/index.php/ZdravVest/article/view/734
Keywords
Medicine

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