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See 1 citation in JACC Cardiovasc Imaging 2019:

JACC Cardiovasc Imaging. 2019 Jul;12(7 Pt 1):1230-1242. doi: 10.1016/j.jcmg.2018.11.039.

The Role of Cardiac Imaging in the Diagnosis and Management of Anderson-Fabry Disease.

Author information

1
College of Medicine, Flinders University of South Australia; Department of Cardiovascular Medicine, Flinders Medical Centre, Southern Adelaide Local Health Network; Cardiac Imaging Research Group, South Australian Health and Medical Research Institute, Adelaide, South Australia.
2
College of Medicine, Flinders University of South Australia; Cardiac Imaging Research Group, South Australian Health and Medical Research Institute, Adelaide, South Australia.
3
College of Medicine, Flinders University of South Australia.
4
Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University, General University Hospital in Prague, Czech Republic.
5
College of Medicine, Flinders University of South Australia; Department of Cardiovascular Medicine, Flinders Medical Centre, Southern Adelaide Local Health Network; Cardiac Imaging Research Group, South Australian Health and Medical Research Institute, Adelaide, South Australia. Electronic address: joseph.selvanayagam@flinders.edu.au.

Erratum in

Abstract

Anderson-Fabry disease (AFD) is a rare X-linked inherited metabolic disorder which results in a deficiency or absence of the enzyme α-galactosidase A, leading to the accumulation of glycosphingolipids in various cells and organs including the heart. Cardiac involvement is common and results in increased myocardial inflammation, left ventricular hypertrophy (LVH), and myocardial fibrosis. Echocardiography and cardiovascular magnetic resonance (CMR) offer distinctive and often complementary use to assist in the diagnosis and monitoring pharmacologic therapy in AFD, including detection of the AFD cardiac phenotype, differentiation from other forms of LVH, and patient selection for therapeutic intervention. Advanced cardiac imaging holds promise in subclinical detection of AFD-related abnormalities as well as disease staging and prognostication.

KEYWORDS:

Anderson-Fabry disease; cardiovascular magnetic resonance; chaperone therapy; echocardiography; enzyme replacement therapy

PMID:
31272606
DOI:
10.1016/j.jcmg.2018.11.039

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