多模态超声技术评估肥厚型心肌病患者及其一级亲属的心肌灌注与收缩功能  

Multimodal ultrasound assessment of myocardial perfusion and contractile function in patients with hypertrophic cardiomyopathy and their first-degree relatives

作　　者：余丽[1] 曾施[1] 周启昌[1] 杨祖荣[1] 黄亿源[2] YU Li;ZENG Shi;ZHOU Qichang;YANG Zurong;HUANG Yiyuan(Department of Ultrasound Diagnosis,Second Xiangya Hospital,Central South University,Changsha 410011;Department of Cardiovascular Medicine,Second Xiangya Hospital,Central South University,Changsha 410011,China)

机构地区：[1]中南大学湘雅二医院超声诊断科,长沙410011 [2]中南大学湘雅二医院心血管内科,长沙410011

出　　处：《中南大学学报(医学版)》2024年第12期1934-1940,共7页Journal of Central South University :Medical Science

基　　金：国家自然科学基金(81900303)。

摘　　要：目的:肥厚型心肌病(hypertrophic cardiomyopathy,HCM)易导致心肌缺血和心功能不全,即使无明显心肌肥厚的基因突变携带者(基因阳性/表型阴性)也易进展成为HCM患者。本研究采用心肌声学造影(myocardial contrast echocardiography,MCE)与速度向量成像(velocity vector imaging,VVI)评价家族性HCM患者及其一级亲属的心肌血流灌注与收缩功能变化,旨在早期评估HCM患者的心肌血流灌注和心功能,以识别家族中基因阳性/表型阴性的危险人群。方法:选取确诊为HCM且携带HCM肌小节突变基因的患者35例为G^(+)/P^(+)组;在家族中同期选取30例携带HCM肌小节突变基因但超声检查无室壁肥厚者为G^(+)/P^(-)组;另选性别、年龄相匹配的无基因突变的家族健康志愿者38例为正常对照组,分别行MCE和VVI检查,记录心肌再充盈峰值强度(peak intensity,PI),达峰值强度时间(time to peak concentration,TP),直线倾斜率(the ratio of declining intensity and declining time,d I/dT)及左室整体纵向应变(global longitudinal strain,GLS)、整体径向应变(global radial strain,GRS)和整体环向应变(global circumferential strain,GCS),并比较其差异和分析相关性。结果:与正常对照组和G^(+)/P^(-)组比较,G^(+)/P^(+)组PI、d I/dT、GLS及GRS均明显降低,TP明显增高(均P<0.05),且GLS和GRS与PI均呈明显正相关(分别r=0.629,r=0.613;均P<0.01),GLS和GRS与TP均呈明显负相关(分别r=-0.597,r=-0.571;均P<0.01),与对照组比较,G^(+)/P^(-)组GLS明显降低(P<0.05),GRS、GCS、PI值、TP值及dI/dT值差异均无统计学意义(均P>0.05)。结论:HCM患者心肌收缩功能受损,且与心肌灌注减少明显相关,无室壁肥厚的HCM肌小节基因突变携带者出现早期左室收缩功能异常,MCE和VVI可定量评估肥厚型心肌病患者及一级亲属的心肌灌注和收缩功能。Objective:Hypertrophic cardiomyopathy(HCM)frequently leads to myocardial ischemia and cardiac dysfunction.Even genotype-positive/phenotype-negative(G^(+)/P^(-))individuals,carriers of pathogenic sarcomere gene mutations without left ventricular hypertrophy,remain at risk of progression to clinical HCM.This study aims to evaluate myocardial perfusion and contractile function in familial HCM patients and their first-degree relatives using myocardial contrast echocardiography(MCE)and velocity vector imaging(VVI),in order to identify early myocardial dysfunction and at-risk individuals within families.Methods:Thirty-five genetically confirmed HCM patients with left ventricular hypertrophy were assigned to a G^(+)/P^(+)group.A total of 30 first-degree relatives carrying sarcomere mutations but without echocardiographic evidence of left ventricular hypertrophy were assigned to a G^(+)/P^(-)group.A total of 38 age-and sex-matched gene-negative healthy family members served as controls.All participants underwent MCE and VVI assessments.Myocardial perfusion parameters,including peak intensity(PI),time to peak concentration(TP),and the ratio of declining intensity and declining time(dI/dT),as well as strain parameters including global longitudinal strain(GLS),global radial strain(GRS),and global circumferential strain(GCS)were recorded and analyzed for differences and correlations.Results:Compared to both the G^(+)/P^(-)and normal control groups,the G^(+)/P^(+)group had significantly lower PI,dI/dT,GLS,and GRS,along with significantly increased TP(all P<0.05).GLS and GRS were positively correlated with PI(r=0.629 and r=0.613,respectively;both P<0.01)and negatively correlated with TP(r=-0.597 and r=-0.571,respectively;both P<0.01).Compared to the normal control group,the G^(+)/P^(-)group showed a significant reduction in GLS(P<0.05),but no significant differences in GRS,GCS,PI,TP,or dI/dT(all P>0.05).Conclusion:Myocardial contractile dysfunction in HCM patients is closely related to impaired perfusion.Even in the absence of

关 键 词：肥厚型心肌病 心肌声学造影 速度向量成像 肌小节基因突变 应变 

分 类 号：R54[医药卫生—心血管疾病]