SCN5A基因A1180V突变致扩张型心肌病(DCM)伴房室传导阻滞(AVB)的家系随访分析  

A follow-up analysis of a family displaying dilated cardiomyopathy(DCM)and atrioventricular block(AVB)caused by A1180V mutation of SCN5A gene

作　　者：申程 徐磊[2,3,4] 杨志寅[5] 苏春玺[6] 孙爱军[2,3,4] 

机构地区：[1]山东大学医学院,济南250012 [2]复旦大学附属中山医院心内科,上海200032 [3]上海市心血管病研究所,上海200032 [4]复旦大学生物医学研究院,上海200032 [5]山东省济宁医学院行为医学研究所,济宁272067 [6]山东省济宁市金乡县人民医院急诊科,济宁272200

出　　处：《复旦学报（医学版）》2014年第2期174-178,共5页Fudan University Journal of Medical Sciences

基　　金：国家自然科学基金(81170202);新世纪优秀人才支持计划(NVET-12-0125)~~

摘　　要：目的通过对已发现的心脏钠通道基因SCN5A点突变A1180V相关的扩张型心肌病(dilated cardiomyopathy,DCM)伴房室传导阻滞(atrioventricular block,AVB)的家系进行随访,探究A1180V突变致DCM的临床特征及病情演变特点。方法参考前期2007年的资料,于2012年对家系中健在的8名A1180V突变携带者及8名非携带者再次予以询问病史及12导联心电图、超声心动图检查,回顾性分析该家系中10名突变携带者(含2名已故的携带者),8名非携带者及1名已故的基因型不详成员的临床资料。结果随访期间,3名A1180V突变携带者首次诊断为一度AVB或二度Ⅰ型AVB;1名A1180V突变携带者由一度AVB进展为DCM伴三度AVB;1名A1180V突变携带者DCM表现进一步加重,心衰症状明显。该家系中A1180V突变携带者发病首发症状常为一度AVB,平均诊断年龄为(34±3.0)岁,并在约5年内逐渐进展为DCM伴三度AVB。结论本随访分析进一步证实了A1180V突变对DCM的致病作用及特点。对该家系定期随访观察,有助于发现A1180V突变携带者的早期病变。Objective To explore the clinical characteristics and disease progression resulting from A1180V mutation of cardiac sodium channel gene SCN5A in a family displaying dilated cardiomyopathy （DCM） and atrioventricular block （AVB）.Methods According to the data of 2007,8 carriers of A1180V muntation and 8 noncarriers were followed up by inquiring medical history,physical examination,12-lead electrocardiogram （ECG） examination and echocardiography in 2012.Clinical data from all of the 10 carriers （including 2 dead patients）,8 non-carriers and a dead man with unknown genotype were analyzed retrospectively.Results During this follow-up period,3 carriers were first diagnosed with first-degree AVB or second-degree AVB of type Ⅰ; one carrier′s condition progressed to cardiac dilation and thirddegree AVB; another carrier′s disease developed even worse with severe heart failure and the patient has been diagnosed with DCM before.In addition,the firstdegree AVB were mostly the primary performance among carriers with a mean diagnosed age of （34±3.0） years.And their disease would progress to DCM with proceeding third-degree AVB in about 5 years.Conclusions The results further confirm the pathogenic role of A1180V mutation in DCM.Regular follow-up of the family may provide more opportunity to detect early abnormalities in carriers of A1180V mutation.

关 键 词：心脏钠通道基因SCNSA A1180V突变 扩张型心肌病 

分 类 号：R542.2[医药卫生—心血管疾病]