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An expert consensus document on the management of cardiovascular manifestations of Fabry disease
Author(s) -
Linhart Aleš,
Germain Dominique P.,
Olivotto Iacopo,
Akhtar Mohammed M.,
Anastasakis Aris,
Hughes Derralynn,
Namdar Mehdi,
Pieroni Maurizio,
Hagège Albert,
Cecchi Franco,
Gimeno Juan R.,
Limongelli Giuseppe,
Elliott Perry
Publication year - 2020
Publication title -
european journal of heart failure
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.149
H-Index - 133
eISSN - 1879-0844
pISSN - 1388-9842
DOI - 10.1002/ejhf.1960
Subject(s) - globotriaosylceramide , fabry disease , medicine , heart failure , enzyme replacement therapy , disease , sudden cardiac death , cardiac hypertrophy , cardiology , disease management , intensive care medicine , left ventricular hypertrophy , cardiac fibrosis , bioinformatics , parkinson's disease , blood pressure , biology
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.