三维斑点追踪成像技术评价肥厚型心肌病MYBPC3基因突变患者早期左室收缩功能的改变
发布时间：2019-04-24 13:46
【摘要】：目的:应三维斑点追踪技术评价MYBPC3基因所致肥厚型心肌病患者早期左室整体与局部收缩功能的改变。方法:收集2013年3月至2016年9月西京医院超声科确诊的294例无血缘关系HCM先症者,利用靶向外显子捕获测序的方法对HCM先证者的96个与遗传性心肌病相关的基因进行全部外显子的扩增和高通量测序,通过基因分析,筛选出39例MYBPC3基因突变患者,同时选取健康对照组40例,应用超声诊断仪(i E33)获取二维图像,Tom Tec software脱机分析软件分析左室三维应变参数。比较两组间常规二维超声参数及三维应变的差异。结果:MYBPC3基因突变患者与正常对照组临床资料无明显差异;二维超声除左室射血分数无明显差异外(p0.05),余超声参数均有显著性差异(p0.05);左室整体纵向应变减低(p0.05),16节段前壁基底部、后间隔中部圆周应变减低;前间隔中部前间隔心尖部、前壁基底部中部心尖部、侧壁基底部中部心尖部、后壁中部、下壁基底部和后间隔基底部纵向应变减低(p0.05);前壁基底部径向应变减低(p0.05)。结论:通过应用三维斑点追踪技术能够发现MYBPC3基因突变患者左室整体与局部收缩功能受损。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]:Aim: to evaluate the changes of left ventricular global and regional systolic function in patients with hypertrophic cardiomyopathy induced by MYBPC3 gene by three dimensional dot tracing technique. Methods: from March 2013 to September 2016, 294 cases of unrelated HCM were collected from the ultrasound department of Xijing Hospital. All 96 genes associated with hereditary cardiomyopathy in HCM proband were amplified and sequenced by targeted exon capture sequencing. 39 patients with MYBPC3 gene mutation were screened by gene analysis. At the same time, 40 cases of healthy control group were selected and the three dimensional strain parameters of left ventricle were analyzed by two dimensional image, Tom Tec software offline analysis software with the help of ultrasonic diagnostic instrument (I E33). The two-dimensional ultrasonic parameters and three-dimensional strain were compared between the two groups. Results: there was no significant difference in the clinical data between the patients with MYBPC3 gene mutation and the control group, except for the left ventricular ejection fraction (LVEF) in two-dimensional ultrasound (p0.05), and there was significant difference in other ultrasonic parameters between the two-dimensional ultrasound group (p0.05). The global longitudinal strain of left ventricle decreased (p0.05), and the circumferential strain at the base of anterior wall of 16 segments and the middle part of posterior septum decreased. The longitudinal strain decreased at the middle of the anterior septum, the middle of the base of the anterior wall, the middle of the base of the lateral wall, the middle of the posterior wall, the bottom of the base of the inferior wall and the bottom of the posterior septum (p0.05). The radial strain at the base of the anterior wall decreased (p 0.05). Conclusion: left ventricular global and regional systolic function in patients with MYBPC3 gene mutation can be detected by three-dimensional dot tracing technique. Aim: to evaluate the early changes of left ventricular systolic function and synchrony in patients with hypertrophic cardiomyopathy induced by MYBPC3 gene mutation by three-dimensional dot tracing (3D-STI) technique. Methods: 96 genes associated with hereditary cardiomyopathy were amplified and sequenced by targeted exon capture sequencing in 96 HCM patients to determine the corresponding genotypes, and the clinical data of all subjects were carried out at the same time. Analysis of conventional two-dimensional ultrasound and three-dimensional speckle tracing technique. Results: there were 20 patients with MYBPC3 truncated mutation and 19 patients with missense mutation of MYBPC3, and the patients with truncated mutation had earlier onset age and more patients underwent modified Morrow procedure, and one patient died suddenly. There was no significant difference in two-dimensional ultrasonic parameters between the two groups. The left ventricular longitudinal strain (GLS) and radial strain (GRS) decreased significantly in the patients with three dimensional strain truncated mutation. The peak time standard deviation and maximum difference of the longitudinal and radial strains were observed in the synchronization parameters (TLS-SD%,TRS-SD%,TLS-diff%,). TRS-diff% was significantly prolonged (P0.05). Conclusion: 3D-STI technique can detect early changes of left ventricular systolic function and synchrony in patients with MYBPC3 truncated mutation, which can provide reference for clinical HCM risk stratification and treatment assessment.
【学位授予单位】：宁夏医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R542.2
本文编号：2464497
[Abstract]:Aim: to evaluate the changes of left ventricular global and regional systolic function in patients with hypertrophic cardiomyopathy induced by MYBPC3 gene by three dimensional dot tracing technique. Methods: from March 2013 to September 2016, 294 cases of unrelated HCM were collected from the ultrasound department of Xijing Hospital. All 96 genes associated with hereditary cardiomyopathy in HCM proband were amplified and sequenced by targeted exon capture sequencing. 39 patients with MYBPC3 gene mutation were screened by gene analysis. At the same time, 40 cases of healthy control group were selected and the three dimensional strain parameters of left ventricle were analyzed by two dimensional image, Tom Tec software offline analysis software with the help of ultrasonic diagnostic instrument (I E33). The two-dimensional ultrasonic parameters and three-dimensional strain were compared between the two groups. Results: there was no significant difference in the clinical data between the patients with MYBPC3 gene mutation and the control group, except for the left ventricular ejection fraction (LVEF) in two-dimensional ultrasound (p0.05), and there was significant difference in other ultrasonic parameters between the two-dimensional ultrasound group (p0.05). The global longitudinal strain of left ventricle decreased (p0.05), and the circumferential strain at the base of anterior wall of 16 segments and the middle part of posterior septum decreased. The longitudinal strain decreased at the middle of the anterior septum, the middle of the base of the anterior wall, the middle of the base of the lateral wall, the middle of the posterior wall, the bottom of the base of the inferior wall and the bottom of the posterior septum (p0.05). The radial strain at the base of the anterior wall decreased (p 0.05). Conclusion: left ventricular global and regional systolic function in patients with MYBPC3 gene mutation can be detected by three-dimensional dot tracing technique. Aim: to evaluate the early changes of left ventricular systolic function and synchrony in patients with hypertrophic cardiomyopathy induced by MYBPC3 gene mutation by three-dimensional dot tracing (3D-STI) technique. Methods: 96 genes associated with hereditary cardiomyopathy were amplified and sequenced by targeted exon capture sequencing in 96 HCM patients to determine the corresponding genotypes, and the clinical data of all subjects were carried out at the same time. Analysis of conventional two-dimensional ultrasound and three-dimensional speckle tracing technique. Results: there were 20 patients with MYBPC3 truncated mutation and 19 patients with missense mutation of MYBPC3, and the patients with truncated mutation had earlier onset age and more patients underwent modified Morrow procedure, and one patient died suddenly. There was no significant difference in two-dimensional ultrasonic parameters between the two groups. The left ventricular longitudinal strain (GLS) and radial strain (GRS) decreased significantly in the patients with three dimensional strain truncated mutation. The peak time standard deviation and maximum difference of the longitudinal and radial strains were observed in the synchronization parameters (TLS-SD%,TRS-SD%,TLS-diff%,). TRS-diff% was significantly prolonged (P0.05). Conclusion: 3D-STI technique can detect early changes of left ventricular systolic function and synchrony in patients with MYBPC3 truncated mutation, which can provide reference for clinical HCM risk stratification and treatment assessment.
【学位授予单位】：宁夏医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R542.2
【参考文献】
相关期刊论文 前4条
1 李静;刘丽文;纳丽莎;孙超;刘莹;王立锋;;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[J];中国超声医学杂志;2016年08期
2 李亚飞;张瑞芳;武丽娜;盛光耀;;三维斑点追踪成像技术评价肥厚型心肌病左室收缩功能和室壁运动同步性[J];郑州大学学报(医学版);2015年03期
3 雷常慧;刘丽文;纳丽莎;左蕾;齐伟;拓胜军;孙超;刘缨;杨娇娇;;三维斑点追踪技术评价肥厚型心肌病患者左心室整体应变的研究[J];中华超声影像学杂志;2014年05期
4 邹玉宝;王继征;吴格茹;宋雷;王曙霞;于晖;张芊;王虎;惠汝太;;心脏型肌球蛋白结合蛋白C基因IVS15-1G>A突变导致肥厚型心肌病[J];中华心血管病杂志;2006年08期
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