Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease.

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License: CC BY 4.0
Serval ID
serval:BIB_755681B65A74
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease.
Journal
Life
Author(s)
Gatterer C., Beitzke D., Graf S., Lenz M., Sunder-Plassmann G., Mann C., Ponleitner M., Manka R., Fritschi D., Krayenbuehl P.A., Kamm P., Dormond O., Barbey F., Monney P. (co-last), Nowak A.
ISSN
2075-1729 (Print)
ISSN-L
2075-1729
Publication state
Published
Issued date
19/05/2023
Peer-reviewed
Oui
Volume
13
Number
5
Pages
1213
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Abstract
Background: Fabry cardiomyopathy is characterized by left ventricular hypertrophy, myocardial fibrosis, arrhythmia, and premature death. Treatment with migalastat, an oral pharmacological chaperone, was associated with a stabilization of cardiac biomarkers and a reduction in left ventricular mass index, as measured by echocardiography. A recent study, using cardiac magnetic resonance (CMR) as the gold standard, found a stable course of myocardial involvement after 18 months of treatment with migalastat. Our study aimed to provide long-term CMR data for the treatment with migalastat. Methods: A total of 11 females and four males with pathogenic amenable GLA mutations were treated with migalastat and underwent 1.5T CMR imaging for routine treatment effect monitoring. The main outcome was a long-term myocardial structural change, reflected by CMR. Results: After migalastat treatment initiation, left ventricular mass index, end diastolic volume, interventricular septal thickness, posterior wall thickness, estimated glomerular filtration rate, and plasma lyso-Gb3 remained stable during the median follow-up time of 34 months (min.: 25; max.: 47). The T1 relaxation times, reflecting glycosphingolipid accumulation and subsequent processes up to fibrosis, fluctuated over the time without a clear trend. No new onset of late gadolinium enhancement (LGE) areas, reflecting local fibrosis or scar formation of the myocardium, could be detected. However, patients with initially present LGE showed an increase in LGE as a percentage of left ventricular mass. The median α-galactosidase A enzymatic activity increased from 37.3% (IQR 5.88-89.3) to 105% (IQR 37.2-177) of the lower limit of the respective reference level (p = 0.005). Conclusion: Our study confirms an overall stable course of LVMi in patients with FD, treated with migalastat. However, individual patients may experience disease progression, especially those who present with fibrosis of the myocardium already at the time of therapy initiation. Thus, a regular treatment re-evaluation including CMR is needed to provide the optimal management for each patient.
Keywords
Fabry disease, GLA, cardiac imaging, cardiac magnetic resonance, cardiomyopathy, chaperone, genetic disease, left ventricular hypertrophy, lysosomal storage, migalastat
Pubmed
Web of science
Open Access
Yes
Create date
05/06/2023 11:15
Last modification date
24/06/2024 7:13
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