摘要
目的探讨法布里病(AFD)累及心脏的临床及心脏MR(CMR)特征。方法回顾性纳入2018年1月至2021年3月阜外医院经基因检测或病理确诊的AFD患者8例(AFD组),其中男3例、女5例,年龄26~60(50±11)岁;同时纳入性别、年龄匹配的肥厚型心肌病(HCM)患者16例(HCM组)和健康对照者16名(正常组)作为对照,HCM组中男6例、女10例,年龄27~68(46±15)岁,正常组中男6名、女10名,年龄26~59(51±11)岁。收集患者的临床基线资料及CMR图像。采用CVI42软件分析CMR图像,并自动生成相应的参数。采用单因素方差分析或Kruskal-Wallis检验比较3组间参数值的差异,两组间比较采用独立样本t检验、Fisher确切概率法或Mann-Whitney U检验。结果AFD组临床和心电图表现与HCM组相比,除合并肾功能不全差异有统计学意义外,余表现差异均无统计学意义(P均>0.05)。AFD组的CMR显示5例为对称性或大致对称性增厚,3例为非对称性增厚;钆对比剂延迟强化(LGE)示5例患者出现心肌强化,以多发、肌壁间强化为主,部分呈局部、心内膜下强化。HCM组的CMR显示14例患者以非对称性室间隔增厚为主、伴或不伴左心室壁其他部位的增厚,2例表现为左心室中远部的增厚;LGE示14例患者出现心肌强化,表现为肥厚心肌内局灶性或斑片状强化,以室间隔右心室插入部局灶性强化多见,部分表现为左心室中远段心内膜下强化。AFD组、HCM组和正常组3组间比较显示,左心房前后径和左心室最大室壁厚度、左心室心肌质量指数(LVMI)、初始T1值组间差异具有统计学意义(P均<0.001),但左心房前后径和左心室最大室壁厚度在AFD组和HCM组间差异无统计学意义(P>0.05)。AFD组的LVMI较正常组和HCM组均增加(P<0.05)。T_(1) mapping示AFD组的初始T1值[(1177.4±46.0)ms]显著低于正常组[(1244.5±34.3)ms]和HCM组[(1278.8±41.6)ms],差异具有统计学意义(F=13.10,P<0.001)。结论AFD与HCM的临床表现相似,当临床怀疑AFD时,影像学检查应首选CMR检查,特别是T1 mapping技术可以为AFD的诊断提供重要价值。
Objective To investigate the clinical and cardiac magnetic resonance(CMR)characteristics of heart involvement in patients with Fabry disease(AFD).Methods From January 2018 to March 2021,eight AFD patients[3 males and 5 females,mean age(50±11)years old,range 26-60 years old]confirmed by genetic testing or pathology in Fuwai Hospital were retrospectively included in this study.At the same time,sixteen patients with hypertrophic cardiomyopathy(HCM)[6 males and 10 females,mean age(46±15)years old]and 16 healthy individuals[6 males and 10 females,mean age(51±11)years old]were included as controls.The clinical baseline data and CMR data of the patients were collected and analyzed.The CMR data were analyzed using the software CVI42,with the corresponding parameters automatically generated.One-way ANOVA or Kruskal-Wallis test was used to compare the differences in the parameters among the three groups.Independent-samples t test,Fisher precise test or Mann-Whitney U test were used for the comparison between each two groups.Results Statistically significant difference was found in renal insufficiency between the HCM group and the AFD group;No other significant difference was found in other clinical factors and ECG results(all P>0.05).CMR results showed that in the AFD group,there were 5 cases with symmetric or roughly symmetric hypertrophy,and 3 with asymmetric hypertrophy.The late gadolinium enhancement(LGE)showed myocardial enhancement in 5 patients,mainly presenting as multiple intermural enhancement,and partially as local subendocardial enhancement.In the HCM group,fourteen cases suffered mainly asymmetric ventricular septal thickening,with or without thickening of other parts of left ventricular wall;and 2 cases had thickening of middle and distal part of the left ventricle.The LGE showed myocardial enhancement in 14 patients,which manifested as focal or patchy enhancement in hypertrophic myocardium,including focal enhancement in the right ventricular insertion of ventricular septum(more common)and subendocardial enhancement in the middle and far segments of left ventricle.Statistically significant difference was found in the differences between the left atrial anterior posterior diameter,the maximum wall thickness of left ventricular,the left ventricular myocardial mass index(LVMI)and the native T1 value among the three groups(all P<0.001).However,there was no statistically significant difference in the left atrial anterior posterior diameter and the maximum wall thickness of left ventricular between AFD group and HCM group(P>0.05).The LVMI in AFD group was higher than that in healthy group and HCM group(all P<0.05).Significant difference was found in the native T1 value among the three groups,with the native T_(1) value of the AFD group[(1177.4±46.0)ms]was significantly lower than that of the healthy group[(1244.5±34.3)ms]and the HCM group[(1278.8±41.6)ms],with(F=13.10,P<0.001).Conclusions The clinical characteristics of AFD and HCM are quite similar.When AFD is suspected,CMR imaging should be the first choice for imaging examination.Especially,T1 mapping imaging can provide important information for the diagnosis of AFD.
作者
徐杨飞
杨凯
刘啸峰
陈秀玉
宋燕燕
王毅晖
郑育聪
喻诗琴
杨淑娟
王家鑫
董志翔
陆敏杰
赵世华
Xu Yangfei;Yang Kai;Liu Xiaofeng;Chen Xiuyu;Song Yanyan;Wang Yihui;Zheng Yucong;Yu Shiqin;Yang Shujuan;Wang Jiaxin;Dong Zhixiang;Lu Minjie;Zhao Shihua(Department of Magnetic Resonance Imaging,Fuwai Hospital,National Center for Cardiovascular Diseases,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100037,China;Department of Radiology,Chizhou City People′s Hospital,Chizhou 247100,China)
出处
《中华放射学杂志》
CAS
CSCD
北大核心
2022年第2期168-174,共7页
Chinese Journal of Radiology
基金
国家自然科学基金(81930044,81620108015)。
关键词
法布里病
心肌病
肥厚型
磁共振成像
临床表现
Fabry disease
Cardiomyopathy,hypertrophic
Magnetic resonance imaging
Clinical characteristics
