三維斑點追蹤成像技術(shù)評價肥厚型心肌病MYBPC3基因突變患者早期左室收縮功能的改變
發(fā)布時間：2019-04-24 13:46
【摘要】：目的:應(yīng)三維斑點追蹤技術(shù)評價MYBPC3基因所致肥厚型心肌病患者早期左室整體與局部收縮功能的改變。方法:收集2013年3月至2016年9月西京醫(yī)院超聲科確診的294例無血緣關(guān)系HCM先癥者,利用靶向外顯子捕獲測序的方法對HCM先證者的96個與遺傳性心肌病相關(guān)的基因進行全部外顯子的擴增和高通量測序,通過基因分析,篩選出39例MYBPC3基因突變患者,同時選取健康對照組40例,應(yīng)用超聲診斷儀(i E33)獲取二維圖像,Tom Tec software脫機分析軟件分析左室三維應(yīng)變參數(shù)。比較兩組間常規(guī)二維超聲參數(shù)及三維應(yīng)變的差異。結(jié)果:MYBPC3基因突變患者與正常對照組臨床資料無明顯差異;二維超聲除左室射血分數(shù)無明顯差異外(p0.05),余超聲參數(shù)均有顯著性差異(p0.05);左室整體縱向應(yīng)變減低(p0.05),16節(jié)段前壁基底部、后間隔中部圓周應(yīng)變減低;前間隔中部前間隔心尖部、前壁基底部中部心尖部、側(cè)壁基底部中部心尖部、后壁中部、下壁基底部和后間隔基底部縱向應(yīng)變減低(p0.05);前壁基底部徑向應(yīng)變減低(p0.05)。結(jié)論:通過應(yīng)用三維斑點追蹤技術(shù)能夠發(fā)現(xiàn)MYBPC3基因突變患者左室整體與局部收縮功能受損。目的:應(yīng)用三維斑點追蹤(3D-STI)技術(shù)評價MYBPC3基因突變致肥厚型心肌病患者的左室收縮功能和同步性的早期改變。方法:利用靶向外顯子捕獲測序方法對274例HCM患者的96個與遺傳性心肌病相關(guān)基因進行全部外顯子擴增和高通量測序,確定相應(yīng)基因型,同時對所有研究對象進行臨床資料、常規(guī)二維超聲及三維斑點追蹤技術(shù)分析。結(jié)果:20例患者攜帶MYBPC3截短突變,19例患者攜帶MYBPC3錯義突變;截短突變患者發(fā)病年齡較早,進行改良Morrow術(shù)式的患者較多,且1例患者猝死;二維超聲參數(shù),兩組間無統(tǒng)計學差異;三維應(yīng)變截短突變患者左室縱向應(yīng)變(GLS)與徑向應(yīng)變(GRS)減低明顯,同步性參數(shù)縱向及徑向應(yīng)變達峰時間標準差和最大差值(TLS-SD%、TRS-SD%、TLS-diff%、TRS-diff%)顯著延長(P0.05)。結(jié)論:3D-STI技術(shù)能夠發(fā)現(xiàn)MYBPC3截短突變患者左室收縮功能和同步性早期改變,可為臨床HCM危險分層和治療評估提供參考依據(jù)。
[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.
【學位授予單位】：寧夏醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2017
【分類號】：R542.2
本文編號：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.
【學位授予單位】：寧夏醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2017
【分類號】：R542.2
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