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 …

T1 map** in cardiac MRI

D Radenkovic, S Weingärtner, L Ricketts, JC Moon… - Heart failure …, 2017 - Springer
Quantitative myocardial and blood T 1 have recently achieved clinical utility in numerous
pathologies, as they provide non-invasive tissue characterization with the potential to …

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 …

Fabry disease in cardiology practice: literature review and expert point of view

A Hagège, P Réant, G Habib, T Damy… - Archives of …, 2019 - Elsevier
Fabry disease is an X-linked progressive multisystemic genetic sphingolipidosis caused by
deficient activity of lysosomal α-galactosidase A. Men aged> 30 years and women aged> 40 …

Update on hypertrophic cardiomyopathy and a guide to the guidelines

S Sen-Chowdhry, D Jacoby, JC Moon… - Nature Reviews …, 2016 - nature.com
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder,
affecting 1 in 500 individuals worldwide. Existing epidemiological studies might have …

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 …

Myocardial edema, myocyte injury, and disease severity in Fabry disease

JB Augusto, S Nordin, R Vijapurapu… - Circulation …, 2020 - ahajournals.org
Background: Cardiovascular magnetic resonance can demonstrate myocardial processes in
Fabry disease (FD), such as low native T1 (sphingolipid storage) and late gadolinium …

Diagnosis and management of patients with left ventricular hypertrophy: Role of multimodality cardiac imaging. A scientific statement of the Heart Failure Association …

B Moura, A Aimo, A Al‐Mohammad… - European Journal of …, 2023 - Wiley Online Library
Left ventricular (LV) hypertrophy consists in an increased LV wall thickness. LV hypertrophy
can be either secondary, in response to pressure or volume overload, or primary, ie not …

Cardiac phenotype of prehypertrophic Fabry disease

S Nordin, R Kozor, S Baig, A Abdel-Gadir… - Circulation …, 2018 - ahajournals.org
Background: Fabry disease (FD) is a rare and treatable X-linked lysosomal storage disorder.
Cardiac involvement determines outcomes; therefore, detecting early changes is important …