Dysfonction sinusale, syndrome de Brugada et syndrome du QT long chez un même patient - Quand la génétique y perd son latin [Sinus node dysfunction, Brugada syndrome and long QT syndrome affecting the same patient : when genetics can't make head or tail of it]

Details

Serval ID
serval:BIB_BDD3E3FCB0E0
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
Dysfonction sinusale, syndrome de Brugada et syndrome du QT long chez un même patient - Quand la génétique y perd son latin [Sinus node dysfunction, Brugada syndrome and long QT syndrome affecting the same patient : when genetics can't make head or tail of it]
Journal
Revue medicale suisse
Author(s)
Porretta A.P., Davoine E., Superti-Furga A., Bhuiyan Z.A., Domenichini G., Herrera Siklody C., Pascale P., Haddad C., Schläpfer J., Pruvot É.
ISSN
1660-9379 (Print)
ISSN-L
1660-9379
Publication state
Published
Issued date
03/06/2020
Peer-reviewed
Oui
Volume
16
Number
696
Pages
1148-1152
Language
french
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
Abstract
The gene SCN5A encodes the cardiac sodium channel which, through the conduction of Na+ current into the cell, generates the fast upstroke of the action potential of cardiomyocytes. Pathogenic variants of SCN5A have been causally associated to several hereditary cardiac diseases including, among others, Brugada syndrome, congenital long QT syndrome and sinus node dysfunction. Recently, overlap syndromes have been described that are characterized by the simultaneous expression of mixed clinical phenotypes among two or more hereditary cardiac diseases associated to the gene SCN5A (HCD-SCN5A). For this reason, it is time to rethink about HCD-SCN5A as different expressions of the same complex spectrum encompassing multiple clinical phenotypes with pronounced overlaps instead of as distinct clinical entities.
Keywords
Brugada Syndrome/genetics, Humans, Long QT Syndrome/genetics, Mutation, NAV1.5 Voltage-Gated Sodium Channel/genetics, Phenotype, Sick Sinus Syndrome/genetics, Syndrome
Pubmed
Create date
10/06/2020 20:48
Last modification date
20/01/2021 7:26
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