GLA基因突变致法布雷病家系的三维超声心动图特征分析

葛郑丹; 周年伟; 田芳艳; 孟芳民; 舒先红; 潘翠珍

doi:10.12025/j.issn.1008-6358.2023.20230510

GLA基因突变致法布雷病家系的三维超声心动图特征分析

Analysis of features of three-dimensional echocardiography in patients with Fabry disease induced by GLA mutation

摘要

摘要:
目的应用三维超声心动图（three-dimensional echocardiography，3DE）评估GLA基因突变致法布雷病（Fabry disease，FD）家系的心内膜回声及左室整体纵向收缩功能。
方法纳入2022年10月在复旦大学附属中山医院就诊的8例FD家系成员。采集所有家系成员的2DE及3DE图像，应用TomTec软件分析左室心肌形变参数。
结果 8例FD患者中，7例携带GLA突变（NM_000169.2: c.902G＞A，p.Arg301Gln）。GLA基因突变致FD家系成员的心内膜回声增强，其中先证者及其一级亲属（n＝5）心内膜可见“双边征”。患者左室整体纵向收缩功能减弱，表现为整体纵向应变降低。
结论左室整体纵向收缩功能减弱，同时心内膜回声增强提示FD，表明3DE有助于早期诊断FD。

Abstract:
Objective To evaluate the changes of endocardial echo and left ventricular global longitudinal systolic function in a Fabry disease (FD) family with GLA gene mutation by three-dimensional echocardiography (3DE).
Methods A FD family included 8 members diagnosed in Zhongshan Hospital, Fudan University in October 2022 were enrolled. 2DE and 3DE images were performed in all participants. The myocardial deformation values of left ventricle were measured by TomTec Imaging Systems.
Results Of 8 FD patients, 7 carried the GLA gene mutation (NM_000169.2: c.902G > A, p.Arg301Gln). Endocardial echoes were enhanced in all patients, and "binary sign" occurred in the first certifier and his first-degree relatives (n＝5). And global longitudinal systolic function of the left ventricle in all patients was decreased, which was manifested as the global longitudinal strain (GLS).
Conclusions The longitudinal systolic function of left ventricle decreased combined with endocardial echo enhancement in 3DE could indicate FD early.

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