肥厚型心肌病患者中Fabry病发生情况和临床、超声心动图及基因突变特点的分析  

Analysis of the Occurrence of Fabry Disease in Patients with Hypertrophic Cardiomyopathy and Its Clinical,Echocardiographic and Gene Mutation Characteristics

作　　者：杨帆[1] 王静[1] 王博[1] 李文霞[1] 康楠[1] 左蕾[1] 刘丽文[1] 

机构地区：[1]解放军第四军医大学西京医院超声医学科,西安市710032

出　　处：《中国超声医学杂志》2018年第3期231-234,共4页Chinese Journal of Ultrasound in Medicine

基　　金：国家国际科技合作专项(No.2014DFA31980);国家自然科学基金(No.81671693;No.81601498);陕西省重点项目(No.S2017-ZDYF-ZDXM-SF-0123)

摘　　要：目的研究Fabry病的发病情况和临床特点,以期提高超声医师的认识及诊断。方法对310例肥厚型心肌病先证者进行遗传性心肌病相关96个基因的二代测序、一代验证及生物信息学分析,共筛选出6例先证者及2例家属携带GLA基因突变的Fabry病患者。收集8例患者临床资料、实验室检查、心电图及超声心动图结果。结果 8例Fabry病患者经基因检测发现1例携带未经报道的GLA基因突变位点(位于5号外显子区核苷酸A643C突变)。8例患者的临床表现、实验室检查及心电图提示均有心脏受累。心脏超声提示左室心肌向心性肥厚、舒张功能均减低、左室整体纵向应变减低。结论 Fabry病多因心肌肥厚为首发或单一表现被误诊,基因检测对Fabry病的诊断有重要价值。Objective To investigate the occurrence and clinical features of Fabry disease misdiagnosed as HCM,in order to improve the understanding and diagnostic accuracy of sonographer.Methods High-throughput sequencing and bioinformatics analysis of 96 genes were performed to 310 proband diagnosed with HCM.The diagnosis were modified in 6 proband and 2 patients with Fabry disease were detected.The clinical data,laboratory tests,ECG and echocardiography of these 8 patients were collected.Results By genetic testing,one unreported GLA mutation,A643 C,located in 5′exon region nucleotides was identified.The clinical data,laboratory tests,ECG showed these patients with cardiac abnormalities.Echocardiographic examination showed these patients had concentric left ventricular hypertrophy,decreased diastolic function and left ventricular global longitudinal strain.Conclusions Fabry disease is easy to be misdiagnosed due to myocardial hypertrophy as the initial or only symptom.Therefore,gene detection plays an important role in the diagnosis of Fabry disease.

关 键 词：FABRY病 心脏 基因检测 a-半乳糖苷酶A 超声心动图 

分 类 号：R540.45[医药卫生—心血管疾病] R542.2[医药卫生—内科学] R596.1[医药卫生—临床医学]