Fabry病累及心脏的临床和影像学特征

Fabry's disease: clinical features and imaging findings

目的分析和总结Fabry病患者心脏受累的临床表现和影像学特征,旨在提高对该病的认识和诊断。材料与方法经病理证实Fabry病累及心脏的1例男性49岁患者,先后行心电图、超声心动图、肾小球滤过率(GFR)测定、选择性冠状动脉造影、主动脉增强CT及磁共振(MRI)检查。结果患者心电图示左心室高电压、一度房室传导阻滞和ST-T改变。超声心动图示左心室壁普遍增厚,左室流出道梗阻,二尖瓣SAM征(+)。双肾肾小球滤过率(GFR)明显减低,双肾摄取及清除功能明显减低。主动脉增强CT未见夹层等异常征象,双肾动脉未见狭窄。冠状动脉造影未见冠状动脉狭窄或阻塞性病变。MRI示左心房扩大,左心室心肌肥厚,延迟扫描示室间隔、左心室前壁及下后壁基底段肌壁间异常强化。结论 Fabry病临床表现多样,综合临床病史、其他系统受累症状及MRI多序列成像,有助于该病的诊断与鉴别诊断。

Objective：One typical case with Fabry＆#39;s disease was reported and a series of clinincal and imaging characteristics were reviewed to identify different types of cardiomyopathy. Materials and Methods：A 49-year-old male patient presented chest pain. ECG, echocardiography, selective coronary artery angiography and MR1 were performed. Results：ECG showed left ventricular hypertrophy, first degree of atrioventricular block and ST-T change. Echocardiography showed left ventricular hypertrophy, left ventricular outlfow obstruction and SAM sign （＋）. Selective coronary artery angiography demonstrated no coronary artery stenosis. MRI showed diffuse myocardial hypertrophy associated with delayed enhancement involving septal, anterial and inferolateral wall of basal segment of left ventricle. Conclusions：Patients with Fabry’s disease may have varied clinical manifestations. Clincal history, multisystemic involvement and delayed enhancement MRI may be helpful to the diagnosis.