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

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Mor-row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 hypertrophic cardiomyopathy patients with truncating mutations of MYBPC3 using three-dimensional speckle tracking imaging (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 cardiomyopathy and identified 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 patient.Two-dimensional echocardiographic 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-SD％,TRS-SD％,TLS-diff％,TRS-diff％) in patients with truncating mutations were also significantly longer than the group with missense mutation (P＜0.05).Conclusions Three-dimensional-STI technique can be 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.