SCN5A overlap syndromes: An open-minded approach.

Arrhythmias, Cardiac / genetics Brugada Syndrome / genetics Humans Mutation NAV1.5 Voltage-Gated Sodium Channel / genetics Phenotype Syndrome
Cardiogenetics Channelopathies Polygenic inheritance SCN5A gene SCN5A overlap syndrome

Journal

Heart rhythm
ISSN: 1556-3871
Titre abrégé: Heart Rhythm
Pays: United States
ID NLM: 101200317

Informations de publication

Date de publication:
08 2022
Historique:
received: 09 06 2021
revised: 07 03 2022
accepted: 22 03 2022
pubmed: 31 3 2022
medline: 27 7 2022
entrez: 30 3 2022
Statut: ppublish

Résumé

SCN5A overlap syndromes are clinical entities that express a phenotype combining aspects of different canonical SCN5A-related arrhythmia syndromes or a variable arrhythmic phenotype among individuals carrying the same SCN5A mutation. Here we review the literature addressing SCN5A overlap syndromes as well as the principal mechanisms currently proposed. Among others, a multifactorial determination encompassing an interaction between SCN5A variant(s), other genetic polymorphisms, and possibly environmental factors seems the most plausible hypothesis.

Identifiants

DOI: 10.1016/j.hrthm.2022.03.1223 PMID: 35351625
pubmed: 35351625
pii: S1547-5271(22)01695-2
doi: 10.1016/j.hrthm.2022.03.1223
pii:
doi:

Substances chimiques

NAV1.5 Voltage-Gated Sodium Channel 0
SCN5A protein, human 0

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

1363-1368

Informations de copyright

Copyright © 2022 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

Auteurs

Alessandra P Porretta (AP)

Service of Cardiology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland; Department of Clinical-Surgical Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy. Electronic address: Alessandra-pia.porretta@chuv.ch.

Vincent Probst (V)

l'Institut du thorax, Service de Cardiologie du CHU de Nantes, Hopital Nord, Nantes Cedex, France.

Zahurul A Bhuiyan (ZA)

Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.

Emeline Davoine (E)

Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.

Antoine Delinière (A)

Service of Rhythmology, Hôpital Cardiologique Louis Pradel, Hospices Civils de Lyon, Lyon, France.

Patrizio Pascale (P)

Service of Cardiology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

Juerg Schlaepfer (J)

Service of Cardiology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

Andrea Superti-Furga (A)

Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland; University of Lausanne, Lausanne, Switzerland.

Etienne Pruvot (E)

Service of Cardiology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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Classifications MeSH

questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Troubles du rythme cardiaque › SCN5A overlap syndromes: An open-minded approach.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Syndrome de Brugada › SCN5A overlap syndromes: An open-minded approach.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › SCN5A overlap syndromes: An open-minded approach.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › SCN5A overlap syndromes: An open-minded approach.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Canaux sodiques voltage-dépendants › Canal sodique voltage-dépendant NAV1.5 › SCN5A overlap syndromes: An open-minded approach.
questionsmedicales.fr › Phénomènes génétiques › Phénotype › SCN5A overlap syndromes: An open-minded approach.
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Maladie › Syndrome › SCN5A overlap syndromes: An open-minded approach.