[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
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

Identifiants

pubmed: 32496703
pii: RMS0696-004

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

1148-1152

Déclaration de conflit d'intérêts

Les auteurs n’ont déclaré aucun conflit d’intérêts en relation avec cet article.

Auteurs

Alessandra Pia Porretta (AP)

Service de cardiologie, Département cœur-vaisseaux, CHUV, 1011 Lausanne.
Université de Pavie, 27100 Pavie, Italie.

Emeline Davoine (E)

Service de médecine génétique, Département médecine de laboratoire et pathologie, CHUV, 1011 Lausanne.

Andrea Superti-Furga (A)

Service de médecine génétique, Département médecine de laboratoire et pathologie, CHUV, 1011 Lausanne.

Zahurul Alam Bhuiyan (ZA)

Service de médecine génétique, Département médecine de laboratoire et pathologie, CHUV, 1011 Lausanne.

Giulia Domenichini (G)

Service de cardiologie, Département cœur-vaisseaux, CHUV, 1011 Lausanne.

Claudia Herrera Siklody (C)

Service de cardiologie, Département cœur-vaisseaux, CHUV, 1011 Lausanne.

Patrizio Pascale (P)

Service de cardiologie, Département cœur-vaisseaux, CHUV, 1011 Lausanne.

Christelle Haddad (C)

Service de cardiologie, Département cœur-vaisseaux, CHUV, 1011 Lausanne.

Jürg Schläpfer (J)

Service de cardiologie, Département cœur-vaisseaux, CHUV, 1011 Lausanne.

Étienne Pruvot (É)

Service de cardiologie, Département cœur-vaisseaux, CHUV, 1011 Lausanne.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH