Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F21%3A10428018" target="_blank" >RIV/00216208:11110/21:10428018 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/21:10428018

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=W02NuUu5MK" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=W02NuUu5MK</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.jacc.2020.12.024" target="_blank" >10.1016/j.jacc.2020.12.024</a>

Result language

angličtina

Original language name

Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week

Original language description

Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient a-galactosidase A activity that leads to an accumulation of globotriasylceramide (Gb3) in affected tissues, including the heart. Cardiovascular involvement usually manifests as left ventricular hypertrophy, myocardial fibrosis, heart failure, and arrhythmias, which limit quality of life and represent the most common causes of death. Following the introduction of enzyme replacement therapy, early diagnosis and treatment have become essential to slow disease progression and prevent major cardiac complications. Recent advances in the understanding of FD pathophysiology suggest that in addition to Gb3 accumulation, other mechanisms contribute to the development of Fabry cardiomyopathy. Progress in imaging techniques have improved diagnosis and staging of FD-related cardiac disease, suggesting a central role for myocardial inflammation and setting the stage for further research. In addition, with the recent approval of oral chaperone therapy and new treatment developments, the FD-specific treatment landscape is rapidly evolving. (C) 2021 by the American College of Cardiology Foundation.

Czech name

—

Czech description

—

Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30201 - Cardiac and Cardiovascular systems

Project

—

Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2021

Confidentiality

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

Name of the periodical

Journal of the American College of Cardiology

ISSN

0735-1097

e-ISSN

—

Volume of the periodical

77

Issue of the periodical within the volume

7

Country of publishing house

US - UNITED STATES

Number of pages

15

Pages from-to

922-936

UT code for WoS article

000631953800011

EID of the result in the Scopus database

2-s2.0-85100490976