Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the
GLA gene that result in a deficiency of the enzymatic activity of α-galactosidase A and …

Right ventricular (RV) systolic function has an important role in the prediction of adverse
outcomes, including mortality, in a wide range of cardiovascular (CV) conditions. Because of …

Left ventricular (LV) hypertrophy consists in an increased LV wall thickness. LV hypertrophy
can be either secondary, in response to pressure or volume overload, or primary, ie not …

Background There is limited evidence on the risk stratification of cardiovascular outcomes in
patients with Fabry disease (FD). Objectives This study sought to classify FD patients into …

Fabry disease (FD) is a rare, X-linked inherited disorder of glycosphingolipid metabolism. It
leads to the progressive accumulation of globotriaosylceramide within lysosomes due to a …

Aims To perform a comparative analysis of right ventricle (RV) myocardial mechanics,
assessed by 2D speckle-tracking echocardiography (2D-STE), between patients with Fabry …

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 …

Fabry disease (FD) is a genetic lysosomal storage disease with frequent cardiovascular
involvement, whose presence is a major determinant of adverse clinical outcomes. As a …

As a slowly progressive form of hypertrophic cardiomyopathy (HCM), Anderson-Fabry
disease (FD) resembles the phenotype of the most common sarcomeric forms, although …

Echocardiography is the most common diagnostic tool to screen for Fabry cardiomyopathy
as it is fast, non-invasive, low-cost, widely available, easily applicable and reproducible …