[HTML][HTML] Reference ranges (“normal values”) for cardiovascular magnetic resonance (CMR) in adults and children: 2020 update

N Kawel-Boehm, SJ Hetzel… - Journal of …, 2020 - Elsevier
Cardiovascular magnetic resonance (CMR) enables assessment and quantification of
morphological and functional parameters of the heart, including chamber size and function …

[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 …

Assessing left ventricular systolic function: from ejection fraction to strain analysis

BP Halliday, R Senior, DJ Pennell - European Heart Journal, 2021 - academic.oup.com
The measurement of left ventricular ejection fraction (LVEF) is a ubiquitous component of
imaging studies used to evaluate patients with cardiac conditions and acts as an arbiter for …

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 …

Myocardial storage, inflammation, and cardiac phenotype in Fabry disease after one year of enzyme replacement therapy

S Nordin, R Kozor, R Vijapurapu… - Circulation …, 2019 - Am Heart Assoc
Background: Cardiac response to enzyme replacement therapy (ERT) in Fabry disease is
typically assessed by measuring left ventricular mass index using echocardiography or …

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

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

The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable storage

JB Augusto, N Johner, D Shah, S Nordin… - European Heart …, 2021 - academic.oup.com
Abstract Aims Cardiac involvement in Fabry disease (FD) occurs prior to left ventricular
hypertrophy (LVH) and is characterized by low myocardial native T1 with sphingolipid …

Quantitative cardiac MRI

A Seraphim, KD Knott, J Augusto… - Journal of magnetic …, 2020 - Wiley Online Library
Cardiac MRI has become an indispensable imaging modality in the investigation of patients
with suspected heart disease. It has emerged as the gold standard test for cardiac function …

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 …

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 …