Fabry病左室应变特征及其在肥厚型心肌病中的鉴别诊断价值  

Characteristics of the left ventricular myocardial strain in Fabry disease and its value in differential diagnosis of hypertrophic cardiomyopathy

作　　者：杨凯[1] 李常城[2] 徐杨飞 王家鑫 董志翔 杨淑娟 喻诗琴 宋燕燕[1] 马璇 崔辰[1] 陈秀玉[1] 陆敏杰[1] 赵世华[1] YANG Kai;LI Changcheng;XU Yangfei;WANG Jiaxin;DONG Zhixiang;YANG Shujuan;YU Shiqin;SONG Yanyan;MA Xuan;CUI Chen;CHEN Xiuyu;LU Minjie;ZHAO Shihua(Department of Magnetic Resonance Imaging,Fuwai Hospital,State Key Laboratory of Cardiovascular Disease,National Center for Cardiovascular Diseases,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100037,China;Department of Radiology,Taian City Hospital(Taian Central Hospital Affiliated to Qingdao University),Taian 271099,China;Department of Radiology,Chizhou City People's Hospital,Chizhou 247100,China)

机构地区：[1]中国医学科学院北京协和医学院国家心血管病中心心血管疾病国家重点实验室阜外医院磁共振影像科,北京100037 [2]泰安市中心医院(青岛大学附属泰安市中心医院)医学影像科,泰安271099 [3]池州市人民医院医学影像科,池州247100

出　　处：《磁共振成像》2022年第12期13-19,25,共8页Chinese Journal of Magnetic Resonance Imaging

基　　金：“十四五”国家重点研发项目(编号:2021YFF0501400、2021YFF0501404);国家自然科学基金重点项目(编号:81930044)。

摘　　要：目的分析Fabry病的左室应变特征及其在肥厚型心肌病(hypertrophic cardiomyopathy,HCM)中的鉴别诊断价值。材料与方法回顾性分析2018年1月至2022年6月中国医学科学院阜外医院经病理或基因证实的Fabry病患者病例10例(Fabry病组)和同时纳入的性别、年龄相匹配的20例HCM患者(HCM组)以及20例正常对照者(正常对照组)的临床资料。分别比较Fabry病组与正常对照组和HCM组的临床基线资料、MRI基本参数及左室应变特征。结果Fabry病组[女6例、男4例,就诊年龄(50.6±9.7)岁]中9例患者有临床症状,其中6例合并肾功能不全或周围神经痛。同正常对照组比较,Fabry病组的左室射血分数无明显减低[(63.1±7.8)%vs.(64.4±4.3)%,P=0.641],而其三个方向的整体应变及其对应的收缩期与舒张早期应变率均显著减低(P值均<0.001)。同HCM组比较,Fabry病组的整体径向应变(global radial strain,GRS)与周向应变(global circumferential strain,GCS)均显著减低(P值均<0.05)。多因素logistic回归分析示GRS与Fabry病独立相关(OR=0.84,95%CI:0.72~0.97,P=0.017),其区分Fabry病与HCM的曲线下面积为0.813。结论左室应变可早期反映Fabry病患者的亚临床心肌功能障碍。GRS能够有效区分Fabry病与HCM,是一个具有潜在价值的新型诊断指标。Objective:To analyze the characteristics of left ventricular myocardial strain in Fabry disease and its value in differential diagnosis of hypertrophic cardiomyopathy(HCM).Materials and Methods:A total of 10 cases with Fabry disease confirmed by pathology or gene in our hospital from January 2018 to June 2022 were retrospectively analyzed.At the same time,clinical data of 20 sex-and age-matched HCM patients and 20 normal controls(normal control group)were included.The clinical baseline data,MR parameters and left ventricular strain were compared between Fabry disease group and normal control group or HCM group.Results:Among the Fabry disease group(6 were female and 4 were male,and the age was 50.6±9.7 years),nine patients had clinical symptoms,including 6 patients with renal dysfunction or peripheral neuralgia.Compared with the normal control group,the left ventricular ejection fraction in the Fabry disease group was not significantly decreased[(63.1±7.8)%vs.(64.4±4.3)%,P=0.641],but the global strain in the three directions and the corresponding systolic and early diastolic strain rates were significantly decreased(all P<0.001).Compared with the HCM group,the global radial strain(GRS)and global circumferential strain(GCS)of Fabry disease group were significantly decreased(all P<0.05).Multivariate logistic regression analysis showed that GRS was independently correlated with Fabry disease(OR=0.84,95%CI:0.72-0.97,P=0.017),and the area under the curve(AUC)to distinguish Fabry disease from HCM was 0.813.Conclusions:Left ventricular strain can early reflect subclinical myocardial dysfunction in patients with Fabry disease.GRS can effectively distinguish Fabry disease from HCM,which is a new diagnostic index with potential value.

关 键 词：FABRY病 肥厚型心肌病 心肌肥厚 应变 磁共振成像 心脏磁共振特征追踪技术 心脏磁共振电影成像 

分 类 号：R445.2[医药卫生—影像医学与核医学] R542.2[医药卫生—诊断学]