法布雷病导致的心肌肥厚特征分析  

Characterization of myocardial hypertrophy due to Fabry disease

作　　者：李冠男[1] 吴韩[1] 李苒[1] 张新林[1] 陈慧[2] 方爱娟[2] 顾蓉[1] 康丽娜[1] 王涟[1] LI Guannan;WU Han;LI Ran;ZHANG Xinlin;CHEN Hui;FANG Aijuan;GU Rong;KANG Lina;WANG Lian(Department of Cardiology,Nanjing Drum Tower Hospital,Affiliated Hospital of Medical School,Nanjing University,Nanjing,210008,China;Department of Ultrasound Medicine,Nanjing Drum Tower Hospital,Affiliated Hospital of Medical School,Nanjing University,Nanjing,210008,China)

机构地区：[1]南京大学医学院附属鼓楼医院心血管内科,南京210008 [2]南京大学医学院附属鼓楼医院超声医学科

出　　处：《临床心血管病杂志》2024年第11期929-932,共4页Journal of Clinical Cardiology

摘　　要：目的:通过分析11例误诊为肥厚型心肌病的法布雷病患者的临床特征,为临床医生诊断法布雷病提供帮助,以减少漏诊和误诊。方法:选取本中心自2021年以来收治的误诊为肥厚型心肌病的11例法布雷病患者。收集患者的一般临床资料、心电图、心脏彩色超声、心脏磁共振等指标,总结分析患者的临床特征。结果:11例患者中受累脏器均≥2个,心电图以ST段及T波改变最为常见,心脏彩超提示心肌厚度≥2 cm且合并右心室肥厚的比例较高,心脏磁共振均可见延迟强化,诊断延误时间平均10.5年。同时发现2个新突变位点。结论:法布雷病表现多样,诊断延误时间较长。多器官受累、心肌明显增厚且合并右心室肥厚等临床特征可以提供诊断线索。Objective:To analyze the clinical characteristics of 1l patients with Fabry disease misdiagnosed as hypertrophic cardiomyopathy,aiming to assist clinical physicians in diagnosing Fabry disease to reduce underdiag-nosis and misdiagnosis.Methods:Eleven patients with Fabry disease misdiagnosed as hypertrophic cardiomyopa-thy,admitted to our center since 2021,were selected.General clinical data,electrocardiogram,cardiac ultra-sound,cardiac magnetic resonance,and other indicators were collected to summarize and analyze the clinical char-acteristics of the patients.Results:In all 1l patients,two or more organs were involved.ST-segment and T-wave changes were most common on electrocardiogram.A high proportion of patients had myocardial thickness≥2 cm and concurrent right ventricular hypertrophy,as shown by cardiac ultrasound.Delayed enhancement was observed on cardiac magnetic resonance.The average diagnostic delay was 1o.5 years.Two new mutation sites were identi-fied.Conclusion:Fabry disease presents with diverse manifestations,and patients often experience delayed diagno-sis.Clinical features such as multi-organ involvement,marked myocardial thickening,and combined right ventric-ular hypertrophy may provide diagnostic clues.

关 键 词：法布雷病 心肌肥厚 α半乳糖苷酶 酶替代治疗 

分 类 号：R542.2[医药卫生—心血管疾病]