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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064165:_____/20:10415620

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30201 - Cardiac and Cardiovascular systems

Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2020

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

European Journal of Heart Failure

ISSN

1388-9842

e-ISSN

—

Svazek periodika

22

Číslo periodika v rámci svazku

7

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

21

Strana od-do

1076-1096

Kód UT WoS článku

000559504800001

EID výsledku v databázi Scopus

2-s2.0-85089368434