法布里病累及心脏的临床及MR特征分析

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）...

Clinical and cardiac MR characteristics of heart involvement in patients with Fabry disease

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 patients3 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 individuals6 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 T₁ 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.