KCNE2 gene mutation and Brugada syndrome.

Brugada Syndrome / diagnosis Death, Sudden, Cardiac Electrocardiography Humans Long QT Syndrome Mutation Potassium Channels, Voltage-Gated / genetics
Brugada syndrome KCNE2 gene Mutation

Journal

Journal of electrocardiology
ISSN: 1532-8430
Titre abrégé: J Electrocardiol
Pays: United States
ID NLM: 0153605

Informations de publication

Date de publication:
Historique:
received: 15 12 2020
revised: 29 01 2021
accepted: 30 01 2021
pubmed: 25 2 2021
medline: 10 7 2021
entrez: 24 2 2021
Statut: ppublish

Résumé

KCNE2 gene mutations have been associated with atrial fibrillation, long QT syndrome, Brugada syndrome and unexplained sudden cardiac death. Herein, we describe a case of Brugada syndrome carrying an heterozygous variant in the KCNE2 gene [NM_172201.2:c.161 T > C, p.(Met54Thr, M54T)]. Gain of function of the Ito current possibly explains the Brugada ECG phenotype in this case.

Identifiants

DOI: 10.1016/j.jelectrocard.2021.01.022 PMID: 33626434
pubmed: 33626434
pii: S0022-0736(21)00039-X
doi: 10.1016/j.jelectrocard.2021.01.022
pii:
doi:

Substances chimiques

KCNE2 protein, human 0
Potassium Channels, Voltage-Gated 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

143-145

Informations de copyright

Copyright © 2021 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest None to declare.

Auteurs

Ioannis Liatakis (I)

Second Department of Cardiology, Arrhythmia Unit, Evangelismos General Hospital of Athens, Greece.

Malena P Pantou (MP)

Molecular Immunopathology and Histocompatibility Unit, Division of Genetics, Onassis Cardiac Surgery Center, Athens, Greece.

Polyxeni Gourzi (P)

Molecular Immunopathology and Histocompatibility Unit, Division of Genetics, Onassis Cardiac Surgery Center, Athens, Greece.

George Bazoukis (G)

Second Department of Cardiology, Arrhythmia Unit, Evangelismos General Hospital of Athens, Greece.

Panagiotis Mililis (P)

Second Department of Cardiology, Arrhythmia Unit, Evangelismos General Hospital of Athens, Greece.

Athanasios Saplaouras (A)

Second Department of Cardiology, Arrhythmia Unit, Evangelismos General Hospital of Athens, Greece.

Konstantinos Vlachos (K)

Second Department of Cardiology, Arrhythmia Unit, Evangelismos General Hospital of Athens, Greece.

Efstathia Prappa (E)

Second Department of Cardiology, Arrhythmia Unit, Evangelismos General Hospital of Athens, Greece.

Dimitrios Degiannis (D)

Molecular Immunopathology and Histocompatibility Unit, Division of Genetics, Onassis Cardiac Surgery Center, Athens, Greece.

Michael Efremidis (M)

Second Department of Cardiology, Arrhythmia Unit, Evangelismos General Hospital of Athens, Greece.

Konstantinos P Letsas (KP)

Second Department of Cardiology, Arrhythmia Unit, Evangelismos General Hospital of Athens, Greece. Electronic address: k.letsas@gmail.com.

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Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Syndrome de Brugada › KCNE2 gene mutation and Brugada syndrome.
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Mort › Mort subite › Mort subite cardiaque › KCNE2 gene mutation and Brugada syndrome.
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Électrodiagnostic › Électrocardiographie › KCNE2 gene mutation and Brugada syndrome.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › KCNE2 gene mutation and Brugada syndrome.
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Troubles du rythme cardiaque › Syndrome du QT long › KCNE2 gene mutation and Brugada syndrome.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › KCNE2 gene mutation and Brugada syndrome.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux potassiques › Canaux potassiques voltage-dépendants › KCNE2 gene mutation and Brugada syndrome.