论文部分内容阅读
目的:探讨肥厚型心肌病(HCM)患者是否存在与心律失常有关的通道改变。方法:以PCR加SSCP方法对24例HCM患者心肌离子通道IKr、IKs和INa的编码基因KvLQT1、HERG、SCN5A进行筛查。正常对照100例。结果:在其中伴严重室性心律失常(短阵室性心动过速及因室性心动过速频发而安装ICD)的12例HCM患者中发现2例存在KvLQT1基因突变,分别为Pro448Arg突变和Val607Ala/Ile608Leu/Met619Leu三突变串联,后一种突变为首次报道。在其余无明显心律失常的12例HCM患者和正常对照中未发现突变。结论:心肌离子通道突变可能是部分HCM患者发生严重心律失常的机制之一。
Objective: To investigate the existence of arrhythmia-related pathways in patients with hypertrophic cardiomyopathy (HCM). Methods: The genes encoding KvLQT1, HERG and SCN5A in myocardial ion channels IKr, IKs and INa were screened by PCR and SSCP in 24 HCM patients. 100 cases of normal control. RESULTS: Two of the 12 HCM patients with severe ventricular arrhythmias (bradycardia and ICD due to frequent ventricular tachyarrhythmias) were found to have KvLQT1 mutations, which were Pro448Arg and Val607Ala / Ile608Leu / Met619Leu triple mutations in tandem, the latter mutation was first reported. No mutations were found in the remaining 12 HCM patients without significant arrhythmia and normal controls. Conclusion: Mutation of myocardial ion channels may be one of the mechanisms of severe arrhythmia in some HCM patients.