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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

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法布雷病(Fabry disease,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 disor-der.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 pro-gress of echocardiographic characters of cardiac lesions in FD,which can help in the early detection of cardiac in-volvement.Early comprehensive treatment based on enzyme replacement therapy(ERT)may delay disease pro-gression and improve patient survival.

Fabry diseasecardiac involvementechocardiographycardiomyopathy

贺文凤、梁士楚、黄鹤

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四川大学华西医院心脏内科(成都,610041)

法布雷病 心脏损害 超声心动图 心肌病

2024

临床心血管病杂志
华中科技大学心血管病研究所 华中科技大学协和医院

临床心血管病杂志

CSTPCD
影响因子:0.653
ISSN:1001-1439
年,卷(期):2024.40(5)
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