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.

2nd Department of Internal Cardiovascular Medicine 1st Faculty of Medicine Charles University General University Hospital Prague Czech Republic

College of Medicine Flinders University of South Australia

College of Medicine Flinders University of South Australia; Cardiac Imaging Research Group South Australian Health and Medical Research Institute Adelaide South Australia

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

JACC Cardiovasc Imaging. 2019 Sep;12(9):1903. doi: 10.1016/j.jcmg.2019.07.004. PubMed

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Three-dimensional echocardiographic left ventricular strain analysis in Fabry disease: correlation with heart failure severity, myocardial scar, and impact on long-term prognosis