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

Aleš Linhart, Dominique P. Germain, Iacopo Olivotto, Mohammed M. Akhtar, Aris Anastasakis, Derralynn Hughes, Mehdi Namdar, Maurizio Pieroni, Albert Hagège, Franco Cecchi, Juan R. Gimeno, Giuseppe Limongelli, Perry Elliott

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1076-1096
Number of pages21
JournalEuropean Journal of Heart Failure
Issue number7
Publication statusPublished - Jul 1 2020
Externally publishedYes


  • Cardiomyopathy
  • Enzyme replacement therapy
  • Fabry disease
  • GLA gene

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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