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

A. Linhart, DP. Germain, I. Olivotto, MM. Akhtar, A. Anastasakis, D. Hughes, M. Namdar, M. Pieroni, A. Hagège, F. Cecchi, JR. Gimeno, G. Limongelli, P. Elliott

. 2020 ; 22 (7) : 1076-1096. [pub] 20200814

Jazyk angličtina Země Velká Británie

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc21020383
E-zdroje Online Plný text

NLK Medline Complete (EBSCOhost) od 2000-03-01 do Před 1 rokem
Wiley Free Content od 1999 do Před 1 rokem

Odkazy

PubMed 32640076
DOI 10.1002/ejhf.1960
Knihovny.cz E-zdroje

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.

Citace poskytuje Crossref.org

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