Fabry disease and the heart: A comprehensive review

O Azevedo, F Cordeiro, MF Gago… - International journal of …, 2021 - mdpi.com
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 …

Treatment of Fabry disease: Established and emerging therapies

M Umer, DK Kalra - Pharmaceuticals, 2023 - mdpi.com
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 …

Prognostic implications of the extent of cardiac damage in patients with Fabry disease

MC Meucci, R Lillo, A Del Franco, E Monda… - Journal of the American …, 2023 - jacc.org
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 …

[HTML][HTML] Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression

SJ Van der Veen, S Körver, A Hirsch… - Molecular Genetics and …, 2022 - Elsevier
Background Enzyme replacement therapy (ERT) slows disease progression of Fabry
disease (FD), especially when initiated before the onset of irreversible organ damage …

Validated model for prediction of adverse cardiac outcome in patients with Fabry disease

C Orsborne, J Bradley, LJ Bonnett, LA Pleva… - Journal of the American …, 2022 - jacc.org
Background The cardiac manifestations of Fabry disease are the leading cause of death, but
risk stratification remains inadequate. Identifying patients who are at risk of adverse cardiac …

Anderson-Fabry disease cardiomyopathy: an update on epidemiology, diagnostic approach, management and monitoring strategies

T Averbuch, JA White, NM Fine - Frontiers in Cardiovascular Medicine, 2023 - frontiersin.org
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by
deficient activity of the enzyme alpha-galactosidase. While AFD is recognized as a …

Cardiovascular magnetic resonance (CMR) in restrictive cardiomyopathies

N Galea, G Polizzi, M Gatti, G Cundari, M Figuera… - La radiologia …, 2020 - Springer
The restrictive cardiomyopathies constitute a heterogeneous group of myocardial diseases
with a different pathogenesis and overlapping clinical presentations. Diagnosing them …

Fabry disease: More than a phenocopy of hypertrophic cardiomyopathy

K Stankowski, S Figliozzi, V Battaglia… - Journal of Clinical …, 2023 - mdpi.com
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 …

Impact of enzyme replacement therapy and migalastat on left atrial strain and cardiomyopathy in patients with Fabry disease

C Pogoda, SM Brand, T Duning… - Frontiers in …, 2023 - frontiersin.org
Aims Cardiomyopathy in Fabry disease (FD) is a major determinant of morbidity and
mortality. This study investigates the effects of FD-specific treatment using enzyme …

Clinical staging of Anderson-Fabry cardiomyopathy: an operative proposal

A Del Franco, G Iannaccone, MC Meucci, R Lillo… - Heart failure …, 2024 - Springer
As a slowly progressive form of hypertrophic cardiomyopathy (HCM), Anderson-Fabry
disease (FD) resembles the phenotype of the most common sarcomeric forms, although …