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

Oscar Werner; Lydia Ichay; Nabila Djouadi; Fernando Vetromile; Marie Vincenti; Sophie Guillaumont; Dominique P Germain; Marc Fila

doi:10.1016/j.ymgmr.2023.101044

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

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

Authors

Oscar Werner^{1

2}, Lydia Ichay³, Nabila Djouadi³, Fernando Vetromile⁴, Marie Vincenti¹, Sophie Guillaumont¹, Dominique P Germain⁵, Marc Fila³

Affiliations

¹ Pediatric Cardiology and Pulmonology Department, M3C Regional Reference Center, Montpellier University Hospital, Montpellier, France.
² Pediatric Imaging Department, Montpellier University Hospital, Montpellier, France.
³ Pediatric nephrology department, Montpellier University Hospital, Montpellier, France.
⁴ Nephrology Department, Montpellier University Hospital, Montpellier, France.
⁵ French Referral Center for Fabry disease, Division of Medical Genetics, University of Versailles and APHP - Paris Saclay University, Garches, France.

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.