三维斑点追踪技术评价MYBPC3基因突变所致家族性肥厚型心肌病患者左室收缩功能的早期改变  

Three-dimensional Speckle Tracking Technology Assessment Left Ventricular Systolic Function in Hypertrophic Cardiomyopathy with MYBPC3 Gene Mutation

作　　者：李静[1] 刘丽文[1] 纳丽莎[2] 孙超[1] 刘莹[3] 王立锋[4] 

机构地区：[1]解放军第四军医大学西京医院超声科,西安市750032 [2]宁夏医科大学总医院心脏中心功能检查部超声心动图室 [3]解放军第四军医大学西京医院放射科,西安市750032 [4]解放军第四军医大学基础医学院生物化学与分子生物学教研室

出　　处：《中国超声医学杂志》2016年第8期707-710,共4页Chinese Journal of Ultrasound in Medicine

基　　金：科技部国家国际合作专项(No.2014DFA31980);国家自然科学基金项目(No.81170305;No.30371571;No.81470452);陕西省国际科技合作项目(No.2013KW33-03);陕西省社发攻关项目(No.2013k5-02-05)

摘　　要：目的应用三维斑点追踪技术(3D-STI)评价MYBPC3基因突变所致家族性肥厚型心肌病(HCM)患者左室收缩功能的早期改变。方法对一个HCM家系进行研究,对先证者通过二代测序方法进行心脏遗传性疾病相关的96个基因测序,通过生物信息学分析确定突变位点,家系其他成员通过Sanger测序对突变位点进行验证,确定相应的基因型。家系资料调查包括超声心动图、3D-STI。结果包括先证者在内3例家系成员携带MYBPC3-P1208fs基因突变,其他家系成员未发现此突变。此家系中与未携带基因突变组相比,携带MYBPC3-P1208fs基因突变组的部分节段纵向应变和整体纵向应变减低(P<0.05),其余参数均无统计学差异。结论 3D-STI能敏感地发现MYBPC3-P1208fs突变所致家族性HCM患者左室收缩功能的早期损害,为临床早期诊断、预测HCM风险提供参考依据。Objective To explore the value of three-dimensional speckle tracking imaging（3D-STI）in evaluating the systolic function of left ventricular in patients in familial hypertrophic cardiomyopathy（HCM）with MYBPC3 gene mutation.Methods Echocardiography and 3D-STI examination in members of a HCM family was followed by exon and boarding intron analysis of 96 genes in the proband using second-generation sequencing.The identified mutations were confirmed by bi-directional Sanger sequencing in all family members.Results Including the proband,there are three family members carrying MYBPC3-P1208 fs gene mutation,other family members did not carry this mutation.Compared with non-mutation carriers,several segments longitudinal strain and global longitudinal strain was reduced in MYBPC3-P1208 fs mutation carriers（P〈0.05）,while other ultrasound and 3Dstrain parameters between the two groups showed no statistically difference.Conclusions Three-dimensional speckle tracking imaging provided a new sensitive method for evaluating LV systolic function damage in familial HCM patients with MYBPC3 gene mutation.It can provide references for early diagnosis,risk prediction of HCM patient.

关 键 词：心肌病 肥厚型 MYBPC3 三维斑点追踪技术 超声心动描记术 

分 类 号：R540.45[医药卫生—心血管疾病] R542.2[医药卫生—内科学]