No differences in native T1 of the renal cortex between Fabry disease patients and healthy subjects in cardiac-dedicated native T1 maps

ABSTRACT: Background: Fabry disease (FD) is an X-linked inherited lysosomal storage disease that is caused by deficient activity of the enzyme alpha-galactosidase A. Cardiovascular magnetic resonance (CMR) imaging can detect cardiac sphingolipid accumulation using native T1 mapping. The kidneys are...

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Main Authors: Anna Damlin, Felix Kjellberg, Raquel Themudo, Kelvin Chow, Henrik Engblom, Mikael Oscarson, Jannike Nickander
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Journal of Cardiovascular Magnetic Resonance
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Online Access:http://www.sciencedirect.com/science/article/pii/S1097664724011311
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author Anna Damlin
Felix Kjellberg
Raquel Themudo
Kelvin Chow
Henrik Engblom
Mikael Oscarson
Jannike Nickander
author_facet Anna Damlin
Felix Kjellberg
Raquel Themudo
Kelvin Chow
Henrik Engblom
Mikael Oscarson
Jannike Nickander
author_sort Anna Damlin
collection DOAJ
description ABSTRACT: Background: Fabry disease (FD) is an X-linked inherited lysosomal storage disease that is caused by deficient activity of the enzyme alpha-galactosidase A. Cardiovascular magnetic resonance (CMR) imaging can detect cardiac sphingolipid accumulation using native T1 mapping. The kidneys are often visible in cardiac CMR native T1 maps; however, it is currently unknown if the maps can be used to detect sphingolipid accumulation in the kidneys of FD patients. Therefore, the aim of this study was to evaluate if cardiac-dedicated native T1 maps can be used to detect sphingolipid accumulation in the kidneys. Methods: FD patients (n = 18, 41 ± 10 years, 44% (8/18) male) and healthy subjects (n = 38, 41 ± 16 years, 47% (18/38) male) were retrospectively enrolled. Native T1 maps were acquired at 1.5T using modified Look-Locker inversion recovery research sequences. Native T1 values were measured by manually delineating regions of interest (ROI) in the renal cortex, renal medulla, heart, spleen, blood, and liver. Endo- and epicardial borders were delineated in the myocardium and averaged across all slices. Blood ROIs were placed in the left ventricular blood pool in the midventricular slice. Results: There were no differences in native T1 between the FD patients and the healthy subjects in the renal cortex (1034 ± 88 ms vs 1056 ± 59 ms, p = 0.29), blood (1614 ± 111 ms vs 1576 ± 100 ms, p = 0.22), spleen (1143 ± 45 ms vs 1132 ± 70 ms, p = 0.54), or liver (568 ± 49 ms vs 557 ± 47 ms, p = 0.41). Native myocardial T1 was lower in FD patients compared to healthy subjects (951 ± 79 vs 1006 ± 38, p<0.01), and higher in the renal medulla (1635 ± 144 vs 1514 ± 81, p<0.01). Conclusion: Compared to healthy subjects, patients with FD and cardiac involvement showed no differences in native T1 of the renal cortex. FD patients had higher native T1 in the renal medulla, which is not totally explained by differences in blood native T1 but may reflect a hyperfiltration state in the development of renal failure. The findings suggest that sphingolipid accumulation in the renal cortex in FD patients could not be detected with cardiac-dedicated research native T1 maps.
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spelling doaj-art-5a277f04db5c4556b724a2543ef2f2f52024-12-16T05:34:53ZengElsevierJournal of Cardiovascular Magnetic Resonance1097-66472024-01-01262101104No differences in native T1 of the renal cortex between Fabry disease patients and healthy subjects in cardiac-dedicated native T1 mapsAnna Damlin0Felix Kjellberg1Raquel Themudo2Kelvin Chow3Henrik Engblom4Mikael Oscarson5Jannike Nickander6Department of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden; Department of Cardiology, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Science, Intervention and Technology at Karolinska Institutet, Division of Medical Imaging and Technology, Stockholm, Sweden, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Radiology, Karolinska University Hospital in Huddinge, Stockholm, SwedenCardiovascular MR R&D Siemens Medical Solutions Inc. Chicago, USADepartment of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Endocrinology, Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, SwedenDepartment of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Corresponding author.ABSTRACT: Background: Fabry disease (FD) is an X-linked inherited lysosomal storage disease that is caused by deficient activity of the enzyme alpha-galactosidase A. Cardiovascular magnetic resonance (CMR) imaging can detect cardiac sphingolipid accumulation using native T1 mapping. The kidneys are often visible in cardiac CMR native T1 maps; however, it is currently unknown if the maps can be used to detect sphingolipid accumulation in the kidneys of FD patients. Therefore, the aim of this study was to evaluate if cardiac-dedicated native T1 maps can be used to detect sphingolipid accumulation in the kidneys. Methods: FD patients (n = 18, 41 ± 10 years, 44% (8/18) male) and healthy subjects (n = 38, 41 ± 16 years, 47% (18/38) male) were retrospectively enrolled. Native T1 maps were acquired at 1.5T using modified Look-Locker inversion recovery research sequences. Native T1 values were measured by manually delineating regions of interest (ROI) in the renal cortex, renal medulla, heart, spleen, blood, and liver. Endo- and epicardial borders were delineated in the myocardium and averaged across all slices. Blood ROIs were placed in the left ventricular blood pool in the midventricular slice. Results: There were no differences in native T1 between the FD patients and the healthy subjects in the renal cortex (1034 ± 88 ms vs 1056 ± 59 ms, p = 0.29), blood (1614 ± 111 ms vs 1576 ± 100 ms, p = 0.22), spleen (1143 ± 45 ms vs 1132 ± 70 ms, p = 0.54), or liver (568 ± 49 ms vs 557 ± 47 ms, p = 0.41). Native myocardial T1 was lower in FD patients compared to healthy subjects (951 ± 79 vs 1006 ± 38, p<0.01), and higher in the renal medulla (1635 ± 144 vs 1514 ± 81, p<0.01). Conclusion: Compared to healthy subjects, patients with FD and cardiac involvement showed no differences in native T1 of the renal cortex. FD patients had higher native T1 in the renal medulla, which is not totally explained by differences in blood native T1 but may reflect a hyperfiltration state in the development of renal failure. The findings suggest that sphingolipid accumulation in the renal cortex in FD patients could not be detected with cardiac-dedicated research native T1 maps.http://www.sciencedirect.com/science/article/pii/S1097664724011311Fabry diseaseLysosomal storage diseasesMagnetic resonance imagingKidney failure
spellingShingle Anna Damlin
Felix Kjellberg
Raquel Themudo
Kelvin Chow
Henrik Engblom
Mikael Oscarson
Jannike Nickander
No differences in native T1 of the renal cortex between Fabry disease patients and healthy subjects in cardiac-dedicated native T1 maps
Journal of Cardiovascular Magnetic Resonance
Fabry disease
Lysosomal storage diseases
Magnetic resonance imaging
Kidney failure
title No differences in native T1 of the renal cortex between Fabry disease patients and healthy subjects in cardiac-dedicated native T1 maps
title_full No differences in native T1 of the renal cortex between Fabry disease patients and healthy subjects in cardiac-dedicated native T1 maps
title_fullStr No differences in native T1 of the renal cortex between Fabry disease patients and healthy subjects in cardiac-dedicated native T1 maps
title_full_unstemmed No differences in native T1 of the renal cortex between Fabry disease patients and healthy subjects in cardiac-dedicated native T1 maps
title_short No differences in native T1 of the renal cortex between Fabry disease patients and healthy subjects in cardiac-dedicated native T1 maps
title_sort no differences in native t1 of the renal cortex between fabry disease patients and healthy subjects in cardiac dedicated native t1 maps
topic Fabry disease
Lysosomal storage diseases
Magnetic resonance imaging
Kidney failure
url http://www.sciencedirect.com/science/article/pii/S1097664724011311
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