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. 2023 Dec 29:38:101044.
doi: 10.1016/j.ymgmr.2023.101044. eCollection 2024 Mar.

Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population

Oscar Werner  1   2 , Lydia Ichay  3 , Nabila Djouadi  3 , Fernando Vetromile  4 , Marie Vincenti  1 , Sophie Guillaumont  1 , Dominique P Germain  5 , Marc Fila  3
Affiliations

Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population

Oscar Werner et al. Mol Genet Metab Rep. .

Abstract

Background: Fabry disease (FD) is a rare X-linked lysosomal disorder caused by pathogenic variants in the alpha-galactosidase-A gene (GLA). Life threatening complications in adulthood include chronic kidney failure, strokes and the cardiac involvement which is the leading cause of mortality. Usually, it presents with hypertrophic cardiomyopathy, together with arrhythmia and conduction abnormalities. An early indicator is decreased T1 value on cardiac magnetic resonance (CMR). Enzyme replacement therapy (ERT) is effective on some extra-cardiac symptoms but its effect on cardiac lesions depends on the level of initial myocardial lesions. CMR is routinely used to monitor cardiac involvement in FD due to its capacity for tissular characterization. However, there is a lack of data on the pediatric population to understand how to integrate CMR into early therapeutic decisions.

Method: Monocentric longitudinal study carried out at Montpellier University Hospital from 2016 to 2022. All pediatric patients with FD were evaluated over time with clinical, biological, and cardiac imaging (CMR, echocardiography).

Results: Out of the six patients included, (3 males), five were treated with ERT during the study. Low T1 values were observed in 4 patients. The normalization of T1 values was observed after 4 years of ERT in 3 patients.

Conclusion: Due to the lack of strong clinical and biological markers of FD in pediatric patients, initiation and follow-up of ERT efficacy remain challenging. CMR with T1-mapping, a noninvasive method, could play a role in the evaluation of early cardiac impairment in young patients at diagnosis and during follow-up with or without ERT.

Keywords: Cardiac MRI; ERT; Fabry disease; T1 mapping.

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Conflict of interest statement

D.P.G. is a consultant for Amicus, Sanofi-Genzyme and Shire. He has received speaker's honoraria from Amicus, Sanofi-Genzyme and Shire.

Figures

Unlabelled Image
Graphical abstract
Fig. 1
Fig. 1
Summary evolution of clinical, biological, and imaging results of patients 1 and 2. A (2021),b (2019), and c (2021): T1 mapping sequences (MOLLI) at the mid ventricule level Middle figures: systematic positive evolution of health-related quality of life and biologic level of GL-3 in reaction to the introduction of the ERT. Lower figures: Evolution of the mean T1 mapping between the first (blue) and the second (orange) CMR with values in the normal range compared to healthy patients (green) ERT: Enzyme replacement therapy; QoL: Quality of life.
Fig. 2
Fig. 2
Summary evolution of clinical, biological, and imaging results of Patient 2. CMR images (2021): T1 mapping sequence in short axis slice at the mid ventricle level. Middle figure: QoL: Negative evolution of the health-related quality of life motivating the introduction of the ERT. GL-3: values slightly increased before the introduction of ERT Lower figure: Lowering of the T1 values between the first (2017) and the second (2021) exam motivating the introduction of ERT. ERT: Enzyme replacement therapy; QoL: Quality of life.
See this image and copyright information in PMC

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