Author + information
- Received September 14, 2018
- Revision received November 19, 2018
- Accepted November 29, 2018
- Published online July 1, 2019.
- Rebecca Perry, BSc, PhDa,b,c,
- Ranjit Shah, MBBSa,b,c,
- Madiha Saiedi, BSc(Hons)a,c,
- Sanjana Patil, BBMed, BSc(Hons)a,
- Anand Ganesan, MBBS, PhDa,b,c,
- Ales Linhart, MD, PhDd and
- Joseph B. Selvanayagam, MBBS(Hons), DPhila,b,c,∗ ()
- aCollege of Medicine, Flinders University of South Australia
- bDepartment of Cardiovascular Medicine, Flinders Medical Centre, Southern Adelaide Local Health Network
- cCardiac Imaging Research Group, South Australian Health and Medical Research Institute, Adelaide, South Australia
- dSecond Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University, General University Hospital in Prague, Czech Republic
- ↵∗Address for correspondence:
Prof. Joseph B. Selvanayagam, Department of Cardiovascular Medicine, Flinders Medical Centre, Flinders Drive, Adelaide 5042, Australia.
• Cardiac involvement in AFD is the most significant contributor to mortality.
• Echocardiography and CMR aid in the diagnosis and management of AFD.
• Although AFD is rare, it is treatable and must be ruled out in patients with unexplained left ventricular hypertrophy.
• Strain and CMR T1 mapping may assist in the early diagnosis of patients with cardiac AFD.
• These techniques hold significant promise in selecting appropriate candidates for and monitoring response to therapy
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.
- Anderson-Fabry disease
- cardiovascular magnetic resonance
- chaperone therapy
- enzyme replacement therapy
Dr. Linhart is a consultant for Shire, Sanofi Genzyme, and Amicus Therapeutics. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.
- Received September 14, 2018.
- Revision received November 19, 2018.
- Accepted November 29, 2018.
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