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Case Reports
. 2025 Mar;41(3):641-643.
doi: 10.1007/s10554-025-03331-y. Epub 2025 Jan 13.

NASCI case of the month: "pseudo normalization of T1 values in Anderson-Fabry disease"

Justin M Sarquiz  1 , Elizabeth M Lee  2
Affiliations
Case Reports

NASCI case of the month: "pseudo normalization of T1 values in Anderson-Fabry disease"

Justin M Sarquiz et al. Int J Cardiovasc Imaging. 2025 Mar.

Abstract

Anderson-Fabry disease (AFD) is a X-linked lysosomal storage disorder that can result in cardiac dysfunction including left ventricular hypertrophy (LVH) and conduction abnormalities (Frontiers in cardiovascular medicine vol. 10) [1]. The manifestations of AFD in women may be isolated to one organ and occur late in life due to the random inactivation of the X chromosome. This non-classic presentation may make reaching a diagnosis more difficult. In our case, a 63-year-old woman with family history of AFD presenting with chest pain underwent echocardiography which showed LVH. Cardiac magnetic resonance (CMR) was performed confirming LVH as well as identifying extensive late gadolinium enhancement. T1 values were normal. Despite normal T1 values and female sex, a diagnosis of cardiac involvement of AFD should still be considered and was confirmed with genetic testing.

Keywords: Anderson-Fabry disease; Left ventricular hypertrophy.

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Conflict of interest statement

Declarations. Competing interests: The authors declare no competing interests.

References

    1. Averbuch T et al (2023) Anderson-Fabry disease cardiomyopathy: an update on epidemiology, diagnostic approach, management and monitoring strategies. Frontiers in cardiovascular medicine vol. 10 1152568. 2 June. https://doi.org/10.3389/fcvm.2023.1152568
    1. Deva DP et al (2016) Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease. Journal of cardiovascular magnetic resonance: official journal of the Society for Cardiovascular Magnetic Resonance vol. 18 14. 31 Mar. https://doi.org/10.1186/s12968-016-0233-6
    1. Germain DP et al (2022) An expert consensus on practical clinical recommendations and guidance for patients with classic fabry disease. Mol Genet Metabolism vol 137:1–2. https://doi.org/10.1016/j.ymgme.2022.07.010 - DOI

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