Anderson–Fabry Disease and the Heart
A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Cardiology".
Deadline for manuscript submissions: closed (31 July 2021) | Viewed by 7624
Special Issue Editor
Special Issue Information
Dear Colleagues,
Anderson–Fabry disease (AFD) is a rare X-linked metabolic disorder due to deficiency in lysosomal enzyme activity of α-galactosidase A (α-GAL), with pathological accumulation of glycosphingolipids in several tissues, inducing a multi-organ progressive dysfunction. Together with Gaucher’s disease, it is one of the most prevalent metabolic storage diseases. AFD patients may frequently develop cardiac involvement, such as rhythm and conduction disturbances, and progressive hypertrophic cardiomyopathy. Early diagnosis is now of utmost importance because some disease manifestations (such as AFD-related cardiomyopathy) can be modified with enzyme replacement therapy (ERT). ERT is available and well-tolerated; however, there is currently no robust evidence for the use of either agalsidase alfa or beta to treat AFD.
Early diagnosis and treatment of cardiac involvement is clearly also a crucial aspect of affected family member management. The contribution of electrocardiography and of cardiovascular imaging techniques (echocardiography, nuclear techniques, cardiac computed tomography, cardiovascular magnetic resonance) is fundamental for screening and diagnosis and for the evaluation of disease progression and the effectiveness of ERT.
This Special Issue of the Journal of Clinical Medicine will focus on the strategies/approaches that have been demonstrated to be effective in early diagnosis, risk stratification, and treatment follow-up of cardiovascular involvement in AFD.
Dr. Roberta Esposito
Guest Editor
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Keywords
- Anderson–Fabry disease
- cardiovascular disease
- metabolic storage disease
- hypertrophic cardiomyopathy
- electrocardiography
- echocardiography
- nuclear techniques
- cardiac computed tomography
- cardiovascular magnetic resonance
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