Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week

M Pieroni, JC Moon, E Arbustini… - Journal of the American …, 2021 - jacc.org
Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by
deficient α-galactosidase A activity that leads to an accumulation of globotriasylceramide …

[HTML][HTML] An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease

DP Germain, G Altarescu, R Barriales-Villa… - Molecular genetics and …, 2022 - Elsevier
Fabry disease is an X-linked inherited lysosomal disorder that causes accumulation of
glycosphingolipids in body fluids and tissues, leading to progressive organ damage and …

An expert consensus document on the management of cardiovascular manifestations of Fabry disease

A Linhart, DP Germain, I Olivotto… - European journal of …, 2020 - Wiley Online Library
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 …

Prevalence and outcome of dual aortic stenosis and cardiac amyloid pathology in patients referred for transcatheter aortic valve implantation

PR Scully, KP Patel, TA Treibel… - European heart …, 2020 - academic.oup.com
Aims Cardiac amyloidosis is common in elderly patients with aortic stenosis (AS) referred for
transcatheter aortic valve implantation (TAVI). We hypothesized that patients with dual aortic …

[HTML][HTML] SCMR Position Paper (2020) on clinical indications for cardiovascular magnetic resonance

T Leiner, J Bogaert, MG Friedrich, R Mohiaddin… - Journal of …, 2020 - Elsevier
Abstract The Society for Cardiovascular Magnetic Resonance (SCMR) last published its
comprehensive expert panel report of clinical indications for CMR in 2004. This new …

Developments in the treatment of Fabry disease

SJ van der Veen, CEM Hollak… - Journal of inherited …, 2020 - Wiley Online Library
Enzyme replacement therapy (ERT) with recombinant α‐galactosidase A (r‐αGAL A) for the
treatment of Fabry disease has been available for over 15 years. Long‐term treatment may …

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 …

[HTML][HTML] An expert consensus on the recommendations for the use of biomarkers in Fabry disease

A Burlina, E Brand, D Hughes, I Kantola… - Molecular Genetics and …, 2023 - Elsevier
Fabry disease is an X-linked lysosomal storage disorder caused by the accumulation of
glycosphingolipids in various tissues and body fluids, leading to progressive organ damage …

The role of cardiac imaging in the diagnosis and management of Anderson-Fabry disease

R Perry, R Shah, M Saiedi, S Patil, A Ganesan… - JACC: Cardiovascular …, 2019 - jacc.org
Anderson-Fabry disease (AFD) is a rare X-linked inherited metabolic disorder which results
in a deficiency or absence of the enzyme α-galactosidase A, leading to the accumulation of …

Anderson–Fabry disease management: role of the cardiologist

M Pieroni, M Namdar, I Olivotto… - European Heart …, 2024 - academic.oup.com
Anderson–Fabry disease (AFD) is a lysosomal storage disorder characterized by glycolipid
accumulation in cardiac cells, associated with a peculiar form of hypertrophic …