Abstrakt
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the alpha-galactosidase A (GLA) gene that leads to reduced or undetectable alpha-galactosidase A enzyme activity and progressive accumulation of globotriaosylceramide and its deacylated form globotriaosylsphingosine in cells throughout the body. FD can be multisystemic with neurological, renal, cutaneous and cardiac involvement or be limited to the heart.
Cardiac involvement is characterized by progressive cardiac hypertrophy, fibrosis, arrhythmias, heart failure and sudden cardiac death. The cardiac management of FD requires specific measures including enzyme replacement therapy or small pharmacological chaperones in patients carrying amenable pathogenicGLAgene variants and more general management of cardiac symptoms and complications.
In this paper, we summarize current knowledge of FD-related heart disease and expert consensus recommendations for its management.