Spinelli Letizia, Bianco Antonio, Riccio Eleonora, Pisani Antonio, Iaccarino Guido
Interdepartmental Research Center for Hypertension and Related Conditions, University of Naples, Naples, Italy.
Department of Public Health, Federico II University, Naples, Italy.
Front Cardiovasc Med. 2024 Sep 2;11:1440636. doi: 10.3389/fcvm.2024.1440636. eCollection 2024.
Anderson-Fabry disease (AFD) is a lysosomal storage disorder, depending on defects in alpha galactosidase A activity, due to a mutation in the galactosidase alpha gene. Cardiovascular involvement represents the leading cause of death in AFD. Cardiac imaging plays a key role in the evaluation and management of AFD patients. Echocardiography is the first-line imaging modality for the identification of the typical features of AFD cardiomyopathy. Advanced echocardiography that allows assessment of myocardial deformation has provided insights into the cardiac functional status of AFD patients. The present review highlights the value and the perspectives of advanced ultrasound imaging in AFD.
安德森-法布里病（AFD）是一种溶酶体贮积症，由于半乳糖苷酶α基因突变导致α-半乳糖苷酶A活性缺陷。心血管受累是AFD患者的主要死亡原因。心脏成像在AFD患者的评估和管理中起着关键作用。超声心动图是识别AFD心肌病典型特征的一线成像方式。能够评估心肌变形的先进超声心动图为了解AFD患者的心脏功能状态提供了依据。本综述强调了先进超声成像在AFD中的价值和前景。
