Cardiac Magnetic Resonance in Fabry Disease: Morphological, Functional, and Tissue Features
Fabry disease (FD) is an X-linked inheritable storage disease caused by a deficiency of alpha-galactosidase causing lysosomal overload of sphingolipids. FD cardiomyopathy is characterized by left ventricular (LV) hypertrophy and should be considered in differential diagnosis with all the other cause...
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| Format: | Article |
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MDPI AG
2022-11-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/12/11/2652 |
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| author | Giovanni Donato Aquaro Carmelo De Gori Lorenzo Faggioni Maria Luisa Parisella Giacomo Aringhieri Dania Cioni Riccardo Lencioni Emanuele Neri |
| author_facet | Giovanni Donato Aquaro Carmelo De Gori Lorenzo Faggioni Maria Luisa Parisella Giacomo Aringhieri Dania Cioni Riccardo Lencioni Emanuele Neri |
| author_sort | Giovanni Donato Aquaro |
| collection | DOAJ |
| description | Fabry disease (FD) is an X-linked inheritable storage disease caused by a deficiency of alpha-galactosidase causing lysosomal overload of sphingolipids. FD cardiomyopathy is characterized by left ventricular (LV) hypertrophy and should be considered in differential diagnosis with all the other causes of LV hypertrophy. An early diagnosis of FD is very important because the enzyme replacement therapy (ERT) may change the fate of patients by blocking both cardiac and systemic involvement and improving prognosis. Diagnosis may be relatively easy in young patients with the typical signs and symptoms of FD, but in male patients with late onset of disease and in females, diagnosis may be very challenging. Morphological and functional aspects are not specific to FD, which cannot be diagnosed or excluded by echocardiography. Cardiac magnetic resonance (CMR) with tissue characterization capability is an accurate technique for the differential diagnosis of LV hypertrophy. The finding of decreased myocardial T1 value in LV hypertrophy is specific to FD. Late gadolinium enhancement (LGE) is found in the late stage of the disease, but it is useful to predict the cardiac response to ERT and to stratify the prognosis. |
| first_indexed | 2024-03-09T19:09:29Z |
| format | Article |
| id | doaj.art-8e9a4b7741ba4969af56bae0233b4620 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-09T19:09:29Z |
| publishDate | 2022-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-8e9a4b7741ba4969af56bae0233b46202023-11-24T04:18:45ZengMDPI AGDiagnostics2075-44182022-11-011211265210.3390/diagnostics12112652Cardiac Magnetic Resonance in Fabry Disease: Morphological, Functional, and Tissue FeaturesGiovanni Donato Aquaro0Carmelo De Gori1Lorenzo Faggioni2Maria Luisa Parisella3Giacomo Aringhieri4Dania Cioni5Riccardo Lencioni6Emanuele Neri7Academic Radiology, University of Pisa, 56124 Pisa, ItalyAcademic Radiology, University of Pisa, 56124 Pisa, ItalyAcademic Radiology, University of Pisa, 56124 Pisa, ItalyAcademic Radiology, University of Pisa, 56124 Pisa, ItalyAcademic Radiology, University of Pisa, 56124 Pisa, ItalyAcademic Radiology, University of Pisa, 56124 Pisa, ItalyAcademic Radiology, University of Pisa, 56124 Pisa, ItalyAcademic Radiology, University of Pisa, 56124 Pisa, ItalyFabry disease (FD) is an X-linked inheritable storage disease caused by a deficiency of alpha-galactosidase causing lysosomal overload of sphingolipids. FD cardiomyopathy is characterized by left ventricular (LV) hypertrophy and should be considered in differential diagnosis with all the other causes of LV hypertrophy. An early diagnosis of FD is very important because the enzyme replacement therapy (ERT) may change the fate of patients by blocking both cardiac and systemic involvement and improving prognosis. Diagnosis may be relatively easy in young patients with the typical signs and symptoms of FD, but in male patients with late onset of disease and in females, diagnosis may be very challenging. Morphological and functional aspects are not specific to FD, which cannot be diagnosed or excluded by echocardiography. Cardiac magnetic resonance (CMR) with tissue characterization capability is an accurate technique for the differential diagnosis of LV hypertrophy. The finding of decreased myocardial T1 value in LV hypertrophy is specific to FD. Late gadolinium enhancement (LGE) is found in the late stage of the disease, but it is useful to predict the cardiac response to ERT and to stratify the prognosis.https://www.mdpi.com/2075-4418/12/11/2652Fabry diseasecardiac magnetic resonanceT1 mappinglate gadolinium enhancementfeature tracking |
| spellingShingle | Giovanni Donato Aquaro Carmelo De Gori Lorenzo Faggioni Maria Luisa Parisella Giacomo Aringhieri Dania Cioni Riccardo Lencioni Emanuele Neri Cardiac Magnetic Resonance in Fabry Disease: Morphological, Functional, and Tissue Features Diagnostics Fabry disease cardiac magnetic resonance T1 mapping late gadolinium enhancement feature tracking |
| title | Cardiac Magnetic Resonance in Fabry Disease: Morphological, Functional, and Tissue Features |
| title_full | Cardiac Magnetic Resonance in Fabry Disease: Morphological, Functional, and Tissue Features |
| title_fullStr | Cardiac Magnetic Resonance in Fabry Disease: Morphological, Functional, and Tissue Features |
| title_full_unstemmed | Cardiac Magnetic Resonance in Fabry Disease: Morphological, Functional, and Tissue Features |
| title_short | Cardiac Magnetic Resonance in Fabry Disease: Morphological, Functional, and Tissue Features |
| title_sort | cardiac magnetic resonance in fabry disease morphological functional and tissue features |
| topic | Fabry disease cardiac magnetic resonance T1 mapping late gadolinium enhancement feature tracking |
| url | https://www.mdpi.com/2075-4418/12/11/2652 |
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