Hypertrophie ventriculaire gauche isolée : et si c’était une maladie de Fabry ? [Isolated left ventricular hypertrophy : is it a Fabry disease?]

Details

Serval ID
serval:BIB_08D864873FA7
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Hypertrophie ventriculaire gauche isolée : et si c’était une maladie de Fabry ? [Isolated left ventricular hypertrophy : is it a Fabry disease?]
Journal
Revue medicale suisse
Author(s)
Barbey F., Dormond O., Monzambani V., Barbey G., Namdar M., Monney P.
ISSN
1660-9379 (Print)
ISSN-L
1660-9379
Publication state
Published
Issued date
07/10/2020
Peer-reviewed
Oui
Volume
16
Number
709
Pages
1886-1890
Language
french
Notes
Publication types: English Abstract ; Journal Article
Publication Status: ppublish
Abstract
Fabry disease, an X-linked disease, results from a deficiency of the lysosomal enzyme alpha-galactosidase A, which causes glycosphingolipids accumulation in the body. On the basis of the residual enzymatic activity level, a classical, severe multisystemic form and an attenuated cardiac variant form are distinguished. In all cases, patients can develop hypertrophic cardiomyopathy in adulthood, the severity of which is the leading cause of morbidity and mortality of the disease. The cardiomyopathy is usually isolated in the cardiac variant form, the most common form of the disease, and should be suspected in the presence of relatively specific ECG, echocardiographic and MRI characteristics.
Pubmed
Create date
09/10/2020 12:06
Last modification date
24/10/2020 6:26
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