肥厚型心肌病心律失常与心肌离子通道突变的关系  

Relationship between arrhythemias and cardiac ion channel mutations in hypertrophic cardiomyopathy patients

作　　者：陆林[1] 沈卫峰[1] 陶蓉[1] 刘艳[1] 金玮[1] 尤蓓[1] 何汝敏[1] 

机构地区：[1]上海第二医科大学附属瑞金医院心内科上海第二医科大学心血管病研究所

出　　处：《临床心血管病杂志》2005年第6期353-355,共3页Journal of Clinical Cardiology

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.

关 键 词：心肌病 肥厚型 心律失常 离子通道 突变 

分 类 号：R542[医药卫生—心血管疾病]