摘要
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:Some hypertrophic cardiomyopathy (HCM) patients have severe arrhythmias and mechanisms remain unknown. We here investigate whether cardiac ion channel alteration exists in HCM and relates with arrhythmias. Method:Using PCR+SSCP, We examined KvlQT1, HERG, SCN5A genes that encode cardiac ion channel IKr, IKs and INa respectively in 24 HCM patients. 100 normal persons were used as controls. Result:Two mutations (Pro448Arg and triple mutation Val607Ala / Ile608Leu / Met619Leu) in KvlQT1 gene were found in 12 HCM patients with prominent ventricular arrhythmia and none was detected in the remaining patients and normal controls. Conclusion:These results indicate that cardiac ion channel mutations may be one of the arrhythogenic mechanisms in some HCM patients.
出处
《临床心血管病杂志》
CAS
CSCD
北大核心
2005年第6期353-355,共3页
Journal of Clinical Cardiology
关键词
心肌病
肥厚型
心律失常
离子通道
突变
Hypertrophic cardiomyopathy
Arrhythemia
Ion channel
Mutation
