Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2021 Aug 1;94(1124):20210020.
doi: 10.1259/bjr.20210020. Epub 2021 Jul 8.

Anderson-fabry disease: role of traditional and new cardiac MRI techniques

Gloria Caredda  1 , Pier Paolo Bassareo  2 , Maria Valeria Cherchi  1 , Gianluca Pontone  3 , Jasjit S Suri  4 , Luca Saba  1
Affiliations
Review

Anderson-fabry disease: role of traditional and new cardiac MRI techniques

Gloria Caredda et al. Br J Radiol. .

Abstract

Anderson-Fabry (FD) disease is a rare X-linked disorder caused by different mutations in the Galactosidase α (GLA) gene, which leads to α-galactosidase A enzyme deficiency and the storage of glycosphingolipids in different kinds of organs, included the heart. This results in myocardial inflammation and left ventricular hypertrophy (LVH) and fibrosis. Echocardiography and cardiac magnetic resonance (C-MRI), in particular with new techniques, such as mapping analysis, late gadolinium enhancement (LGE) assessment and strain imaging, are important tools that allow a correct diagnosis, discriminating FD from other hypertrophic heart conditions. C-MRI is able to detect tissue alterations in the early stages of the disease, when an appropriate treatment could be more effective, and it has a fundamental role in monitoring therapy.

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
a, b and c: apical and mid-ventricular hypertrophy (arrows) in cine images in 4-chamber (a), 2-chamber (b) and 3-chamber (c) view. d, e and f: basal (d), mid (e) and apical (f) short axis view.
Figure 2.
Figure 2.
a, b: myocardial hypertrophy at the basal segments. c: LGE localized in the inferior-lateralsegment (arrow). d: native T1 mapping: 1012 ms (black arrow) and 1195 ms (white arrow). e: T2 mapping: <50 ms (black arrow) and 59 ms (white arrow). f: ECV: <30% (black arrow) and 49% (white arrow). ECV, Extracellular volume; LGE, Late gadolinium enhancement.
Figure 3.
Figure 3.
Case of a male patient with LGE signal in the basal infero-lateral wall of the left ventricle, with a subepicardial disposition. LGE, Late gadolinium enhancement.
Figure 4.
Figure 4.
Case of a patient with RV involvement, showed by an LGE signal in the anterior segmentof the mid and basal RV (white arrows). LGE, Late gadolinium enhancement; RV, Right ventricle.
Figure 5.
Figure 5.
Case of a patient with mild asymmetrical ventricular hypertrophy, with a septal thickness of 12 mm.
See this image and copyright information in PMC

References

    1. Rozenfeld P, Feriozzi S. Contribution of inflammatory pathways to Fabry disease pathogenesis. Mol Genet Metab 2017; 122: 19–27. doi: 10.1016/j.ymgme.2017.09.004 - DOI - PubMed
    1. Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, et al. . Characterization of classical and nonclassical Fabry disease: a multicenter study. J Am Soc Nephrol 2017; 28: 1631–41. doi: 10.1681/ASN.2016090964 - DOI - PMC - PubMed
    1. Schiffmann R, Fuller M, Clarke LA, Aerts JMFG. Is it Fabry disease? Genet Med 2016; 18: 1181–5. doi: 10.1038/gim.2016.55 - DOI - PubMed
    1. Miller JJ, Kanack AJ, Dahms NM. Progress in the understanding and treatment of Fabry disease. Biochimica et biophysica acta. General subjects 2020; 1864: 129437. - PMC - PubMed
    1. Mallett A, Kearey P, Cameron A, Healy H, Denaro C, Thomas M, et al. . The CKD. Qld fabRy epidemiology (acquire) study protocol: identifying the prevalence of fabRy disease amongst patients with kidney disease in Queensland, Australia. BMC Nephrol 2020; 21: 58. doi: 10.1186/s12882-020-01717-9 - DOI - PMC - PubMed

MeSH terms