[HTML][HTML] 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 …

[HTML][HTML] Anderson–Fabry Disease: Red Flags for Early Diagnosis of Cardiac Involvement

A Iorio, F Luca, A Pozzi, CM Rao, C Chimenti… - Diagnostics, 2024 - mdpi.com
Anderson–Fabry disease (AFD) is a lysosome storage disorder resulting from an X-linked
inheritance of a mutation in the galactosidase A (GLA) gene encoding for the enzyme alpha …

Deep learning-derived 12-lead electrocardiogram-based genotype prediction for hypertrophic cardiomyopathy: a pilot study

LT Chen, GS Fu, CY Jiang - Annals of Medicine, 2023 - Taylor & Francis
Objective: Given the psychosocial and ethical burden, patients with hypertrophic
cardiomyopathy (HCMs) could benefit from the establishment of genetic probability prior to …

[HTML][HTML] 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 …

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 …

[HTML][HTML] Electrocardiographic abnormalities in patients with cardiomyopathies

A Aimo, A Milandri, A Barison, A Pezzato, P Morfino… - Heart Failure …, 2024 - Springer
Abnormalities in impulse generation and transmission are among the first signs of cardiac
remodeling in cardiomyopathies. Accordingly, 12-lead electrocardiogram (ECG) of patients …

Diagnostic and prognostic electrocardiographic features in patients with hypertrophic cardiomyopathy

A Bernardini, L Crotti, I Olivotto… - European Heart Journal …, 2023 - academic.oup.com
The standard 12-lead electrocardiogram (ECG) represents a cornerstone for the diagnosis
and evaluation of hypertrophic cardiomyopathy (HCM), the most common genetically …

Myocardial infarction with non-obstructive coronary arteries in hypertrophic cardiomyopathy vs Fabry disease

F Graziani, R Lillo, E Biagini, G Limongelli… - International Journal of …, 2022 - Elsevier
Background Little is known about prevalence and predictors of myocardial infarction with
non-obstructive coronary arteries (MINOCA) in Fabry disease (FD) and hypertrophic …

[HTML][HTML] ECG changes during adult life in Fabry disease: Results from a large longitudinal cohort study

M El Sayed, PG Postema, M Datema, L van Dussen… - Diagnostics, 2023 - mdpi.com
Background Background: Fabry disease (FD) is an X-linked, lysosomal storage disorder
leading to severe cardiomyopathy in a significant proportion of patients. To identify ECG …

Diagnostic value of papillary muscle hypertrophy and mitral valve thickness to discriminate cardiac amyloidosis and Fabry disease

I Mattig, T Steudel, G Barzen, D Frumkin… - International Journal of …, 2024 - Elsevier
Background Cardiac amyloidosis (CA) and Fabry disease (FD) cause myocardial damage
but may also affect the valvular and subvalvular apparatus. We aimed to evaluate the …