An expert consensus document on the management of cardiovascular manifestations of Fabry disease
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F20%3A10415620" target="_blank" >RIV/00216208:11110/20:10415620 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/20:10415620
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=UG20WXoKzh" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=UG20WXoKzh</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/ejhf.1960" target="_blank" >10.1002/ejhf.1960</a>
Alternative languages
Result language
angličtina
Original language name
An expert consensus document on the management of cardiovascular manifestations of Fabry disease
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30201 - Cardiac and Cardiovascular systems
Result continuities
Project
—
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
European Journal of Heart Failure
ISSN
1388-9842
e-ISSN
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Volume of the periodical
22
Issue of the periodical within the volume
7
Country of publishing house
NL - THE KINGDOM OF THE NETHERLANDS
Number of pages
21
Pages from-to
1076-1096
UT code for WoS article
000559504800001
EID of the result in the Scopus database
2-s2.0-85089368434