C60 MYOCARDIAL T1 MAPPING IN ANDERSON–FABRY DISEASE AND ITS CORRELATION WITH GENETIC ANOMALITIES
| Autor: | G Casavecchia, F Mautone, M Pesolo, M Gravina, N Brunetti |
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| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | European Heart Journal Supplements. 25:D25-D25 |
| ISSN: | 1554-2815 1520-765X |
| DOI: | 10.1093/eurheartjsupp/suad111.059 |
| Popis: | Objective Cardiac involvement in Anderson–Fabry Disease is possible even in mild forms, and new analytical methods and the quantitative value evident with the T1 Native sequence for Mapping study demonstrated a linear correlation with disease severity compared with traditional MR sequences. GLA gene alterations on the X chromosome are very heterogeneous and correlated with decreased or absent alpha–galactosidase enzyme, resulting in different timing of manifestation and clinical evolution. In addition to the classic form of central nervous system, kidney and heart involvement there is a variant with only cardiac involvement, also found in our study. Materials and Methods We retrospectively analyzed 18 consecutive Cardiac MRI examinations performed in patients with established Anderson–Fabry disease at the University Radiology Department of Policlinico Riuniti di Foggia from August 2019 to January 2022. Native T1 sequences for T1 Mapping study are currently the gold standard for evaluation of cardiac involvement in Anderson–Fabry disease. Results T1 Mapping values were lower with characteristic normality of ECV after mdc. In PSIR sequences acquired after mdc for the study of "Late Gadolinium Enhancement" usually a mesocardial signal hyperintensity of the infero–lateral wall of the left ventricle characterized by fibrotic deposits is evident but this sign usually occurs when the heart is already hypertrophied. Instead, reduced Native T1 values serve as an early marker of myocardial involvement, even before the development of hypertrophy as also found in our study population. In fact in 10 out of 18 patients the only value indicating myocardial involvement was reduced T1 Mapping Native values below 1000 in at least 3 out of 17 segments. In 6 cases there was concentric left ventricular wall hypertrophy and in 2 cases mesocardial hyperintensity was evident in the PSIR sequences for the "Late Gadolinium Enhancement" study of the basal segments of the infero–lateral left ventricular wall. Conclusions Magnetic resonance imaging plays a key role in the study of cardiac involvement in Anderson–Fabry disease with potential to predict the extent of detectable accumulation at the cardiac level based on the genetic abnormality. |
| Databáze: | OpenAIRE |
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