[Sinus node dysfunction, Brugada syndrome and long QT syndrome affecting the same patient : when genetics can't make head or tail of it].
Dysfonction sinusale, syndrome de Brugada et syndrome du QT long chez un même patient - Quand la génétique y perd son latin.
Journal
Revue medicale suisse
ISSN: 1660-9379
Titre abrégé: Rev Med Suisse
Pays: Switzerland
ID NLM: 101219148
Informations de publication
Date de publication:
03 Jun 2020
03 Jun 2020
Historique:
entrez:
5
6
2020
pubmed:
5
6
2020
medline:
11
6
2020
Statut:
ppublish
Résumé
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. Le gène
Autres résumés
Type: Publisher
(fre)
Le gène
Substances chimiques
NAV1.5 Voltage-Gated Sodium Channel
0
SCN5A protein, human
0
Types de publication
Journal Article
Review
Langues
fre
Sous-ensembles de citation
IM
Pagination
1148-1152Déclaration de conflit d'intérêts
Les auteurs n’ont déclaré aucun conflit d’intérêts en relation avec cet article.