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 …

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 …

KEY POINTS Fabry disease is a multisystemic disease that can affect several organs,
resulting in cardiac, neurologic, ocular, cutaneous, and renal manifestations. Age at onset …

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

Fabry disease (FD) is a rare genetic X-linked disorder that can impact multiple organs.
Cardiac involvement influences the prognosis of patients with FD, being one of the main …

Highlights•Echocardiography can effectively identify cardiac manifestations of Fabry
disease.•Increased ventricular wall thickness has been the most commonly described …

Aims Differentiating phenotypes of cardiac “hypertrophy” characterised by increased wall
thickness on echocardiography is essential for management and prognostication …

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

Aims Right ventricular hypertrophy (RVH) is a common finding in Anderson–Fabry disease
(AFD), but the prognostic role of right ventricular (RV) involvement has never been …

Fabry disease is a lysosomal storage disease with a variety of cardiac manifestations.
Although not specific for a diagnosis of Fabry disease, certain cardiac imaging findings may …