Scientific article
Open access

An expert consensus document on the management of cardiovascular manifestations of Fabry disease

Published inEuropean Journal of Heart Failure, vol. 22, no. 7, p. 1076-1096
Publication date2020

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the α-galactosidase A (GLA) gene that leads to reduced or undetectable α-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 pathogenic GLA gene 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.

  • Cardiomyopathy
  • Enzyme replacement therapy
  • Fabry disease
  • GLA gene
Citation (ISO format)
LINHART, Aleš et al. An expert consensus document on the management of cardiovascular manifestations of Fabry disease. In: European Journal of Heart Failure, 2020, vol. 22, n° 7, p. 1076–1096. doi: 10.1002/ejhf.1960
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Article (Published version)
ISSN of the journal1388-9842

Technical informations

Creation10/12/2020 11:06:00 AM
First validation10/12/2020 11:06:00 AM
Update time03/16/2023 12:01:09 AM
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