KCNE2 gene mutation and Brugada syndrome

KCNE2 gene mutation and Brugada syndrome

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 fun...

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Veröffentlicht in:Journal of electrocardiology 2021-03, Vol.65, p.143-145
Hauptverfasser: Liatakis, Ioannis, Pantou, Malena P., Gourzi, Polyxeni, Bazoukis, George, Mililis, Panagiotis, Saplaouras, Athanasios, Vlachos, Konstantinos, Prappa, Efstathia, Degiannis, Dimitrios, Efremidis, Michael, Letsas, Konstantinos P.
Format: Artikel
Sprache:eng
Schlagworte:
Brugada syndrome
Cardiac arrhythmia
Electrocardiography
Genetics
Genotype & phenotype
KCNE2 gene
Mutation
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Zusammenfassung: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.
ISSN:0022-0736
1532-8430
DOI:10.1016/j.jelectrocard.2021.01.022