Arq Bras Cardiol: Imagem cardiovasc. 2022; 35(1): ecom20

My Approach to the Echocardiographic Assessment of Anderson-Fabry Disease

DOI: 10.47593/2675-312X/20223501ecom20

Echocardiographic assessment of anderson-fabry disease

Anderson-Fabry disease (AFD) is a rare lysosomal inborn metabolism error due to changes to the long arm of the X chromosome that result in deficiencies of the alpha-galactosidase enzyme, which is responsible for metabolizing glycosphingolipids. Systemic presentations result from the accumulation of these substances in the cells of organs such as the heart, central and peripheral nervous system, kidneys, eyes, skin, and others. This heart disease, which resembles a sarcomeric hypertrophic cardiomyopathy phenocopy, is a main cause of mortality due to heart failure, arrhythmia, and/or myocardial ischemia in this population in Brazil. The natural disease progression can be changed by an accurate and early diagnosis and the availability of specific intravenous enzyme replacement or oral chaperone therapy, thereby increasing quality of life and life expectancy. Thus, echocardiography plays an essential role as a diagnostic and risk stratification tool in the assessment of therapeutic efficacy and the investigation of cardiac complications.

[…]