Elucidation of the cellular basis of arrhythmias in ion channelopathy disorders is complicated by the inherent difficulties in studying human cardiac tissue. Thus we used a computer modeling approach to study the mechanisms of cellular dysfunction induced by mutations in inward rectifier potassium channel (K(ir))2.1 that cause Andersen-Tawil syndrome (ATS). ATS is an autosomal dominant disorder associated with ventricular arrhythmias that uncommonly degenerate into the lethal arrhythmia torsade de pointes. We simulated the cellular and tissue effects of a potent disease-causing mutation D71V K(ir)2.1 with mathematical models of human ventricular myocytes and a bidomain model of transmural conduction. The D71V K(ir)2.1 mutation caused significant action potential duration prolongation in subendocardial, midmyocardial, and subepicardial myocytes but did not significantly increase transmural dispersion of repolarization. Simulations of the D71V mutation at shorter cycle lengths induced stable action potential alternans in midmyocardial, but not subendocardial or subepicardial cells. The action potential alternans was manifested as an abbreviated QRS complex in the transmural ECG, the result of action potential propagation failure in the midmyocardial tissue. In addition, our simulations of D71V mutation recapitulate several key ECG features of ATS, including QT prolongation, T-wave flattening, and QRS widening. Thus our modeling approach faithfully recapitulates several features of ATS and provides a mechanistic explanation for the low frequency of torsade de pointes arrhythmia in ATS.

译文

阐明离子通道病疾病中心律失常的细胞基础因研究人类心脏组织的固有困难而变得复杂。因此,我们使用计算机建模方法来研究由引起Andersen-Tawil综合征 (ATS) 的内向整流钾通道 (K(ir))2.1突变引起的细胞功能障碍的机制。ATS是一种常染色体显性遗传性疾病,与室性心律失常相关,通常退化为致死性心律失常。我们用人类心室肌细胞的数学模型和透壁传导的双齿瘤模型模拟了有效的致病突变D71V K(ir)2.1的细胞和组织效应。D71V K(ir)2.1突变导致心内膜下,中心肌和心外膜下肌细胞的动作电位持续时间显着延长,但并未显着增加复极的透壁离散度。在较短的周期长度上模拟D71V突变会在中段心肌中诱导稳定的动作电位交替,但不诱导心内膜下或心外膜下细胞。在透壁ECG中,动作电位交替体表现为缩写的QRS复合体,这是动作电位在中段心肌组织中传播失败的结果。此外,我们对D71V突变的模拟概括了ATS的几个关键ECG特征,包括QT延长,T波平坦化和QRS增宽。因此,我们的建模方法忠实地概括了ATS的几个特征,并为ATS中尖端扭转型心律失常的低频率提供了机械解释。

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