法布雷病相关心脏损害的超声心动图表现  

Echocardiographic characters of cardiac involvement associated with Fabry disease

作　　者：贺文凤 梁士楚 黄鹤[1] HE Wenfeng;LIANG Shichu;HUANG He(Department of Cardiology,West China Hospital,Sichuan University,Chengdu,610041,China)

机构地区：[1]四川大学华西医院心脏内科,成都610041

出　　处：《临床心血管病杂志》2024年第5期366-371,共6页Journal of Clinical Cardiology

摘　　要：法布雷病(Fabrydisease,FD)是一种罕见的X连锁遗传性疾病,表现为溶酶体贮积障碍。FD病变主要累及心肌细胞、血管内皮细胞、平滑肌细胞、肾脏细胞和神经元细胞。与正常人群相比,FD男性患者寿命平均减少15~20年,女性患者寿命平均减少6~10年,心血管系统并发症是男性(34%)和女性(57%)患者的主要死亡原因。早期发现FD心脏损害进而采取临床干预尤为重要。本文综述了FD心脏损害的超声心动图表现研究进展,旨在早期发现FD相关心脏损害,尽早启动以酶替代治疗为主的综合治疗,延缓疾病进展,提高生存率。Fabry disease(FD)is a rare X-linked hereditary disease characterized by lysosomal storage disorder.FD lesions mainly involved myocardial cells,vascular endothelial cells,smooth muscle cells,renal cells,and neuronal cells.Compared with the normal population,the average life expectancy of FD male patients is reduced by 15-20 years,and the average life expectancy of female patients is reduced by 6-10 years.Cardiovascular system complications are the main cause of death in male(34%)and female(57%)patients.Early detection of cardiac involvement associated with FD and clinical intervention are particularly important.This article reviews the progress of echocardiographic characters of cardiac lesions in FD,which can help in the early detection of cardiac involvement.Early comprehensive treatment based on enzyme replacement therapy(ERT)may delay disease progression and improve patient survival.

关 键 词：法布雷病 心脏损害 超声心动图 心肌病 

分 类 号：R445.1[医药卫生—影像医学与核医学]