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 …

Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification

I Keyzor, S Shohet, J Castelli, S Sitaraman… - Biomolecules, 2023 - mdpi.com
The treatment landscape for lysosomal storage disorders (LSDs) is rapidly evolving. An
increase in the number of preclinical and clinical studies in the last decade has …

Fatigue as hallmark of Fabry disease: role of bioenergetic alterations

J Gambardella, E Riccio, A Bianco… - Frontiers in …, 2024 - frontiersin.org
Fabry disease (FD) is a lysosomal storage disorder due to the impaired activity of the α-
galactosidase A (GLA) enzyme which induces Gb3 deposition and multiorgan dysfunction …

Long-term monitoring of cardiac involvement under migalastat treatment using magnetic resonance tomography in Fabry disease

C Gatterer, D Beitzke, S Graf, M Lenz… - Life, 2023 - mdpi.com
Background: Fabry cardiomyopathy is characterized by left ventricular hypertrophy,
myocardial fibrosis, arrhythmia, and premature death. Treatment with migalastat, an oral …

Right heart and left atrial strain to differentiate cardiac amyloidosis and Fabry disease

I Mattig, T Steudel, K Klingel, G Barzen, D Frumkin… - Scientific Reports, 2024 - nature.com
Echocardiographic differentiation of cardiac amyloidosis (CA) and Fabry disease (FD) is
often challenging using standard echocardiographic parameters. We retrospectively …

A review and recommendations for oral chaperone therapy in adult patients with Fabry disease

M Nowicki, S Bazan-Socha… - Orphanet journal of rare …, 2024 - Springer
Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting both males and
females caused by genetic abnormalities in the gene encoding the enzyme α-galactosidase …

The role of imaging in the selection of patients for HFpEF therapy

T Baron, S Gerovasileiou… - European Heart Journal …, 2023 - academic.oup.com
Heart failure with preserved ejection fraction (HFpEF) traditionally has been characterized
as a form of heart failure without therapeutic options, in particular with a lack of response to …

Advanced CMR techniques in Anderson-Fabry disease: state of the art

A Ponsiglione, M De Giorgi, R Ascione, C Nappi… - Diagnostics, 2023 - mdpi.com
Anderson-Fabry disease (AFD) is a rare multisystem X-linked lysosomal storage disorder
caused by α-galactosidase A enzyme deficiency. Long-term cardiac involvement in AFD …

Hypertrophic cardiomyopathy versus Storage Diseases with myocardial Involvement

A Burban, S Pucyło, A Sikora, G Opolski… - International Journal of …, 2023 - mdpi.com
One of the main causes of heart failure is cardiomyopathies. Among them, the most common
is hypertrophic cardiomyopathy (HCM), characterized by thickening of the left ventricular …

[HTML][HTML] How Do Physical Activity and Exercise Affect Fabry Disease? Exploring a New Opportunity

F Baciga, G Marchi, F Caccia, C Momentè… - Kidney and Blood …, 2024 - karger.com
Background: Fabry disease (FD) is a multisystem, monogenic, X-linked storage disorder
caused by mutations in the GLA gene, resulting in reduced alfa-galactosidase A enzyme …