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

Life · 15 authors, 11 centres

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TL;DR

This retrospective multinational study evaluated long-term cardiac changes in 15 adult patients with amenable GLA mutations treated with migalastat, using serial cardiac MRI (CMR).

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This retrospective multinational study evaluated long-term cardiac changes in 15 adult patients with amenable GLA mutations treated with migalastat, using serial cardiac MRI (CMR). However, in a subgroup of seven patients with pre-existing late gadolinium enhancement (LGE), myocardial fibrosis increased significantly from a median of 3% to 6% of left ventricular mass. Enzyme activity (α-Gal A) significantly increased, but no correlation with changes in LVMi was found.

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other

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cardiology

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ORIGINAL PAPER

PMC10222787

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

Life

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ABSTRACT

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, cardiac imaging, cardiac magnetic resonance, chaperone, migalastat, cardiomyopathy, lysosomal storage, left ventricular hypertrophy, GLA , genetic disease

CITATION EXPORT

Constantin Gatterer, Dietrich Beitzke, Senta Graf et al.. Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease. Life. (2023). https://doi.org/10.3390/life13051213

AUTHORS

15 · 11 CENTRES

Constantin Gatterer, Dietrich Beitzke, Senta Graf, Max Lenz, Gere Sunder-Plassmann, Christopher Mann, Markus Ponleitner, Robert Manka, Daniel Fritschi, Pierre-Alexandre Krayenbuehl, Philipp Kamm, Olivier Dormond, Frédéric Barbey, Pierre Monney, Albina Nowak

1Department of Medicine II, Division of Cardiology, Medical University of Vienna, 1090 Vienna, Austria; [email protected] (C.G.);
2Department of Biomedical Imaging and Image-Guided Therapy, Medical University of Vienna, 1090 Vienna, Austria
3Department of Medicine III, Division of Nephrology and Dialysis, Medical University of Vienna, 1090 Vienna, Austria
4Department of Neurology, Medical University of Vienna, 1090 Vienna, Austria
5Institute of Diagnostic and Interventional Radiology and Department of Cardiology, University Hospital Zurich, University of Zurich, 8091 Zurich, Switzerland
6University Heart Center, University Hospital Zurich, 8091 Zurich, Switzerland
7Department of Endocrinology and Clinical Nutrition, University Hospital Zurich and University of Zurich, 8091 Zurich, Switzerland
8Radiology Department, Spital Langenthal, 4900 Langenthal, Switzerland
9Department of Immunology, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne, 1011 Lausanne, Switzerland
10Department of Cardiology, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne, 1011 Lausanne, Switzerland; [email protected]
11Division of Internal Medicine, Psychiatric University Hospital Zurich, 8008 Zurich, Switzerland