三维斑点追踪技术评价肥厚型心肌病MYBPC3基因截短突变患者左室收缩功能和同步性的早期改变  

Three-dimensional Speckle Tracking Technology in Evaluating Early Changes of Left Ventricular Systolic Function and Synchrony in Hypertrophic Cardiomyopathy Patients with Truncating Mutations of MYBPC3 Gene

作　　者：张相空 纳丽莎[2] 刘丽文[3] 左蕾[3] 李静[3] 王博[3] 王立锋[4] 

机构地区：[1]宁夏医科大学,银川市750004 [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超声科 [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》2017年第3期228-230,共3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.81671693)

摘　　要：目的应用三维斑点追踪(3D-STI)技术评价MYBPC3基因突变致肥厚型心肌病患者的左室收缩功能和同步性的早期改变。方法利用靶向外显子捕获测序方法对274例HCM患者的96个与遗传性心肌病相关基因进行全部外显子扩增和高通量测序,确定相应基因型,同时对所有研究对象进行临床资料、常规二维超声及三维斑点追踪技术分析。结果 20例患者携带MYBPC3截短突变,19例患者携带MYBPC3错义突变;截短突变患者发病年龄较早,进行改良Morrow术式的患者较多,且1例患者猝死;二维超声参数,两组间无统计学差异;三维应变截短突变患者左室纵向应变(GLS)与径向应变(GRS)减低明显,同步性参数纵向及径向应变达峰时间标准差和最大差值(TLS-SD%、TRS-SD%、TLS-diff%、TRS-diff%)显著延长(P<0.05)。结论 3D-STI技术能够发现MYBPC3截短突变患者左室收缩功能和同步性早期改变,可为临床HCM危险分层和治疗评估提供参考依据。Objective To evaluate the early changes of left ventricular systolic function and synchrony in hyper trophic cardiomyopathy patients with truncating mutations of MYBPC3 using three-dimensional speckle tracking ima- ging （3D-STI）. Methods Targeted exon capture sequencing method for 274 HCM patients was completely used for exon amplification and high-throughput sequencing of 96 genes associated with hereditary eardiomyopathy and identi fled gene mutations. The clinical data, conventional two-dimensional echocardiography and three-dimensional speckle tracking technology of all subjects were acquired to compare the differences inall patients. Results Protein truncating mutation of MYBPC3 gene was found in 20 patients, and missense mutation was found in 19 patients. Patients with truncating mutation showed severe manifestations： an early onset age, high rate of operation and sudden death in 1 pa tient. Two-dimensional echoeardiographic parameters showed no statistical significance between the two groups. In terms of three-dimensional strain, GLS and the GRS in patients with truncating mutations showed significant reduction. Synchronization parameters （TLS-SDG, TRS-SDG, TLS-diff%, TRS-diffG） in patients with truncating muta tions were also significantly longer than the group with missense mutation （P^0.05）. Conclusions Three-dimension abSTI technique can he used to detect changes of left ventricular systolic function and synchrony in patients with MYBPC3 gene mutation in early stages and provide a reference for risk stratification and clinical evaluation of HCM.

关 键 词：肥厚型心肌病 MYBPC3基因 截短突变 三维斑点追踪技术 同步性 

分 类 号：R445.1[医药卫生—影像医学与核医学] R542.2[医药卫生—诊断学]