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

发布时间：2018-04-05 18:14

本文选题：肥厚型心肌病　切入点：MYBPC基因　出处：《中国超声医学杂志》2017年03期

【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(P0.05)。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。
[Abstract]:Objective to evaluate the early changes of left ventricular systolic function and synchrony in patients with hypertrophic cardiomyopathy caused by MYBPC3 gene mutation using 3D dot tracker 3D-STI technique.Methods all 96 genes associated with hereditary cardiomyopathy were amplified and high-throughput sequencing was performed in 274 patients with HCM by targeting exon capture and sequencing, and the corresponding genotypes were determined.Conventional two-dimensional ultrasound and three-dimensional speckle tracing technique analysis.Results Twenty patients with MYBPC3 truncated mutation and 19 patients with MYBPC3 missense mutation, the patients with truncated mutation had earlier onset age, more patients underwent modified Morrow operation, and 1 patient died of sudden death, there was no statistical difference between the two groups in the parameters of two-dimensional ultrasound.The longitudinal strain (GLS) and the radial strain (GRS) of the left ventricle were significantly decreased in the patients with three dimensional strain truncation mutation. The longitudinal and radial strain peak time standard deviation and the maximum difference of the synchronous parameters were significantly prolonged (P 0.05).Conclusion 3D-STI technique can detect the early changes of left ventricular systolic function and synchronism in patients with truncated MYBPC3 mutation, and can provide reference for clinical risk stratification and treatment evaluation of HCM.
【作者单位】：宁夏医科大学;宁夏医科大学总医院心脏中心功能检查部超声心动图室;解放军第四军医大学西京医院超声科;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;
【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)
【分类号】：R445.1;R542.2

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