https://doi.org/10.4081/monaldi.2024.3214
The gatekeeper images in hypertrophic cardiomyopathy: the role of native T1 mapping in Anderson-Fabry disease
Published: December 23, 2024
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Authors
We presented a case of a 49-year-old presenting with atypical chest pain and hypertrophic phenotype cardiomyopathy without coronary artery disease. At cardiac magnetic resonance (CMR), the left ventricle was of normal volumes and preserved global ejection fraction with an asymmetric wall hypertrophy. The evaluation of native myocardial T1 has been calculated at an average global value of 924 ms, compatible with hypertrophic phenotype cardiomyopathy with reduced native T1 values as observed in Anderson-Fabry disease. The genetic analysis confirmed the Anderson-Fabry disease with a mutation in the exon 5 of the GLA gene, revealing the mutation c.644 A>G. This case report demonstrated that the images obtained in CMR and the analysis of the T1 native mapping, compared with the normal values obtained in the Center, may be considered a gatekeeper in the diagnostic assessment, avoiding redundant examinations, reducing costs, and radiological exposure.
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Clarke JT. Narrative review: Fabry disease. Ann Intern Med 2007;146:425-33.
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DOI: https://doi.org/10.1111/cge.12386
Haaf P, Garg P, Messroghli DR, et al. Cardiac T1 mapping and extracellular volume (ECV) in clinical practice: a comphrensive review. J Cardiovasc Megn Reson 2016;18:89.
DOI: https://doi.org/10.1186/s12968-016-0308-4
Sado DM, White SK, Piechnik SK, et al. Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping. Circ Cardiovasc Imaging 2013;6:392-8.
DOI: https://doi.org/10.1161/CIRCIMAGING.112.000070
Esposito R, Santoro C, Mandoli GE, et al. Cardiac imaging in Anderson-Fabry disease: past, present and future. J Clin Med 2012;10:1994.
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DOI: https://doi.org/10.1186/s12968-016-0233-6
How to Cite
Testa, Marzia, Eleonora Indolfi, Guido Pastorini, Enrica Conte, and Mauro Feola. 2024. “The Gatekeeper Images in Hypertrophic Cardiomyopathy: The Role of Native T1 Mapping in Anderson-Fabry Disease”. Monaldi Archives for Chest Disease, December. https://doi.org/10.4081/monaldi.2024.3214.
Copyright (c) 2024 The Author(s)
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