Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by pathogenic
variants in the α‐galactosidase A (GLA) gene that leads to reduced or undetectable α …

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 …

Background Fabry Disease (FD), an X linked lysosomal storage disease due to pathogenic
α-galactosidase A (GLA) mutations, results in two major subtypes, the early-onset Type 1 …

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 …

Imaging cardiac hypertrophy in hypertrophic cardiomyopathy a... : Current Opinion in
Cardiology Imaging cardiac hypertrophy in hypertrophic cardiomyopathy and its differential …

Background The assessment of late gadolinium enhancement (LGE) and left ventricular
hypertrophy (LVH) by cardiac magnetic resonance (CMR) as diagnostic and prognostic …

Introduction Aim of this study was to evaluate, in a metropolitan area not already explored,
the prevalence of Anderson–Fabry disease, by genetic screening, in patients with …

Objectives To assess the value of cardiac MRI in comparison to echocardiography in
consecutive patients with previously diagnosed and new suspected hypertrophic …

Background: The aim of this study was to explore the rare variants in a cohort of Romanian
index cases with hypertrophic cardiomyopathy (HCM). Methods: Forty-five unrelated …

Left ventricular hypertrophy (LVH) caused by cardiac variant Fabry disease (FD) is typically
late-onset and may mimic LVH caused by abnormal loading conditions. We aimed to …