University of Western Ontario, Division of Cardiology, London, Ontario, Canada.
Can J Cardiol. 2011 Nov-Dec;27(6):870.e11-3. doi: 10.1016/j.cjca.2011.05.004. Epub 2011 Aug 27.
KCNJ2 is the only gene implicated in Andersen-Tawil syndrome. Sudden cardiac arrest is rare in Andersen-Tawil syndrome. However, sudden cardiac arrest is often the index presentation in other forms of long QT syndrome. We present an unreported variant in the KCNJ2 gene, associated with long QT syndrome, that presented with ventricular fibrillation. Exercise testing and adrenaline infusion were useful in assigning pathogenicity to this variant of unknown significance.
KCNJ2 是唯一被牵连到 Andersen-Tawil 综合征的基因。心脏性猝倒是 Andersen-Tawil 综合征中罕见的表现。然而，心脏性猝倒在其他长 QT 综合征形式中常常是首发症状。我们报告了一种 KCNJ2 基因中的未报道变异，与长 QT 综合征相关，表现为心室颤动。运动试验和肾上腺素输注有助于将这种意义不明的变异赋予致病性。
