Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations -: Characteristic T-U-wave patterns predict the KCNJ2 genotype
Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations -: Characteristic T-U-wave patterns predict the KCNJ2 genotype
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DOI：
10.1161/circulationaha.104.472498
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发表时间：
2005-05-31
期刊：
影响因子：
37.8
通讯作者：
Vincent, GM
中科院分区：
文献类型：
--
作者：
Zhang, L;Benson, DW;Vincent, GM
背景-KCNJ 2突变（ATS 1）的Andersen-Tawil综合征（ATS）患者的ECG特征尚未得到系统评估。本研究旨在定义心电图特征的KCNJ 2突变载体，以确定是否存在特征性的T-U波模式，并建立是否T-U模式预测ATS 1 genotype.Methods和结果-在第一阶段，评估T-U形态在心电图的39 KCNJ 2突变载体确定特征T-U模式：延长终端T下坡，宽T-U交界处，双相和扩大U波。在II期研究中，在接下来的147例ECG（57例其他KCNJ 2突变携带者，61例未受影响的家庭成员和29例无KCNJ 2突变的ATS患者）中评估了T-U模式的ATS 1基因型预测，灵敏度为84%，特异性为97%。91%（87/96）有特征性T-U波，以U波增大为主（73%）。在III期研究中，比较了96例ATS 1、29例非KCNJ 2 ATS和75例正常受试者的QTc、QUc以及T波和U波持续时间/振幅。在ATS 1患者中，QUc、U波持续时间和振幅以及QTc均增加（P < 0.001），但中位数QTc和四分位距（IQR）仅为440 ms（IQR，28 ms）与420 ms相比（IQR，20 ms）在正常受试者和425 ms（IQR，48 ms）在ATS非KCNJ 2患者中。结论-在ATS 1患者中，由于KCNJ 2突变引起的I-K1降低导致的基因特异性T-U波模式可以帮助诊断和指导基因分型。正常的QTc、独特的ECG和其他临床特征将ATS 1与长QT综合征区分开来，最好将其命名为ATS 1而不是LQT 7。
Background - The ECG features of Andersen-Tawil syndrome (ATS) patients with KCNJ2 mutations ( ATS1) have not been systematically assessed. This study aimed to define ECG features of KCNJ2 mutation carriers, to determine whether characteristic T-U - wave patterns exist, and to establish whether T-U patterns predict the ATS1 genotype.Methods and Results - In phase I, evaluation of T-U morphology in ECGs of 39 KCNJ2 mutation carriers identified characteristic T-U patterns: prolonged terminal T downslope, wide T-U junction, and biphasic and enlarged U waves. In phase II, ATS1 genotype prediction by T-U pattern was evaluated in the next 147 ECGs ( 57 other KCNJ2 mutation carriers, 61 unaffected family members, and 29 ATS patients without KCNJ2 mutations), with a sensitivity of 84% and specificity of 97%. Characteristic T-U patterns were present in 91% (87/96), in whom an enlarged U wave was predominant (73%). In phase III, QTc, QUc, and T- and U-wave duration/amplitude were compared in the 96 ATS1, 29 non-KCNJ2 ATS, and 75 normal subjects. In ATS1 patients, QUc, U-wave duration and amplitude, and QTc were all increased (P < 0.001), but median QTc and interquartile range (IQR) were just 440 ms ( IQR, 28 ms) compared with 420 ms (IQR, 20 ms) in normal subjects and 425 ms (IQR, 48 ms) in ATS non-KCNJ2 patients.Conclusions - In ATS1 patients, gene-specific T-U-wave patterns resulting from decreased I-K1 owing to KCNJ2 mutations can aid diagnosis and direct genotyping. The normal QTc, distinct ECG, and other clinical features distinguish ATS1 from long-QT syndrome, and it is best designated as ATS1 rather than LQT7.