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目的探讨三维斑点追踪技术(3D-STI)评价MYH7His1717Gln基因突变所致家族性肥厚型心肌病(FHCM)患者早期左室局部收缩功能。方法研究一个中国汉族HCM家系,应用3D-STI脱机分析软件TomTec测量左室16个节段三维应变参数。对先证者与遗传性心肌病相关的96个基因进行全部外显子的扩增和高通量测序,进一步通过Sanger测序法在其他7例家系成员及300例健康志愿者中进行验证,依据其是否携带MYH7His1717Gln基因突变位点,将该家系成员分为HCM组和对照组。结果与对照组比较,HCM组前间隔基底段的纵向应变明显减低(P<0.05),前壁及后间隔基底段纵向应变虽无统计学差异但有减低趋势,后壁中段及后间隔心尖段纵向应变明显增加(P<0.05)。HCM组前壁中段径向应变增加(P<0.05),前壁中段、心尖段圆周应变增加(P<0.05),其余各节段各应变均无统计学差异。结论三维斑点追踪技术能敏感的发现MYH7 His1717Gln基因突变所致FHCM患者左室早期局部收缩功能的损害,对临床早期诊断、干预FHCM家系成员有重要的潜在应用价值。
Objective To investigate the early left ventricular regional systolic function in patients with familial hypertrophic cardiomyopathy (FHCM) induced by MYH7His1717Gln gene mutation by 3D speckle tracking (3D-STI). Methods A Chinese Han HCM pedigree was studied. Three-dimensional strain parameters of 16 segments of left ventricle were measured by TomTec 3D-STI offline analysis software. The 96 exons of hereditary cardiomyopathy-related genes were amplified and high-throughput sequenced, and further verified by Sanger sequencing in seven other family members and 300 healthy volunteers, based on Whether it carries MYH7His1717Gln gene mutation sites, the family members are divided into HCM group and control group. Results Compared with the control group, the longitudinal strain of the basement anterior segment of HCM group was significantly decreased (P <0.05), while the longitudinal strain of the anterior wall and basement posterior segment of the HCM group was not significantly different Longitudinal strain was significantly increased (P <0.05). The radial strain in the anterior wall of the HCM group increased (P <0.05), and the circumferential strain in the anterior segment of the anterior wall increased (P <0.05). There was no significant difference in the other segments. Conclusion Three-dimensional speckle tracking can sensitively detect the damage of early local systolic function in FHCM induced by MYH7 His1717Gln gene mutation. It has important potential value in early clinical diagnosis and intervention of FHCM family members.