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Review
. 2024 Aug 14;13(16):4771.
doi: 10.3390/jcm13164771.

Contemporary Multimodality Imaging for Diagnosis and Management of Fabry Cardiomyopathy

Simrat Kaur  1 , Jaideep Singh Bhalla  2 , Angelika L Erwin  3 , Wael Jaber  1 , Tom Kai Ming Wang  1
Affiliations
Review

Contemporary Multimodality Imaging for Diagnosis and Management of Fabry Cardiomyopathy

Simrat Kaur et al. J Clin Med. .

Abstract

Fabry disease (FD) is an X-linked lysosomal storage disorder which leads to the accumulation of globotriaosylceramide (Gb3) in various organs, including the heart. FD can be subdivided into classic disease resulting from negligible residual enzyme activity and a milder, atypical phenotype with later onset and less severe clinical presentation. The use of multimodality cardiac imaging including echocardiography, cardiac magnetic resonance and nuclear imaging is important for the diagnostic and prognostic evaluation in these patients. There are gaps in the literature regarding the comprehensive description of cardiac findings of FD and its evaluation by multimodality imaging. In this review, we describe the contemporary practices and roles of multimodality cardiac imaging in individuals affected with Fabry disease.

Keywords: Fabry disease; cardiac MRI; infiltrative cardiomyopathies.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Imaging findings of Fabry-related cardiomyopathy. (A) Left ventricular hypertrophy by EKG. (B) Left ventricular hypertrophy by echocardiogram. (C) Left ventricular outflow obstruction with gradient as observed by echocardiography. (D) Global longitudinal strain with reduced strain in the basal inferior segments. (E) Cardiac MRI showing late gadolinium enhancement (LGE) in basal inferior and lateral segments. (F) T1 mapping with low T1 time and normal extracellular volume.
Figure 2
Figure 2
Cardiac MRI findings in a patient with Fabry disease and its progression through various stages.
Figure 3
Figure 3
Diagnostic and treatment algorithm in a patient with suspected Fabry cardiomyopathy.
See this image and copyright information in PMC

References

    1. Kornreich R., Bishop D.F., Desnick R.J. The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease. Trans. Assoc. Am. Phys. 1989;102:30–43. - PubMed
    1. Echevarria L., Benistan K., Toussaint A., Dubourg O., Hagege A.A., Eladari D., Jabbour F., Beldjord C., De Mazancourt P., Germain D.P. X-chromosome inactivation in female patients with Fabry disease. Clin. Genet. 2016;89:44–54. doi: 10.1111/cge.12613. - DOI - PubMed
    1. Mehta A., Hughes D.A. Fabry Disease. In: Adam M.P., Feldman J., Mirzaa G.M., Pagon R.A., Wallace S.E., Bean L.J.H., Gripp K.W., Amemiya A., editors. GeneReviews(®) University of Washington; Seattle, WA, USA: 1993. - PubMed
    1. Sanders K.A., Gavrilov D.K., Oglesbee D., Raymond K.M., Tortorelli S., Hopwood J.J., Lorey F., Majumdar R., Kroll C.A., McDonald A.M., et al. A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders. Int. J. Neonatal Screen. 2020;6:44. doi: 10.3390/ijns6020044. - DOI - PMC - PubMed
    1. Tower-Rader A., Jaber W.A. Multimodality Imaging Assessment of Fabry Disease. Circ. Cardiovasc. Imaging. 2019;12:e009013. doi: 10.1161/CIRCIMAGING.119.009013. - DOI - PubMed

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