Second Department of Cardiology, Arrhythmia Unit, Evangelismos General Hospital of Athens, Greece.
Molecular Immunopathology and Histocompatibility Unit, Division of Genetics, Onassis Cardiac Surgery Center, Athens, Greece.
J Electrocardiol. 2021 Mar-Apr;65:143-145. doi: 10.1016/j.jelectrocard.2021.01.022. Epub 2021 Feb 13.
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.
KCNE2 基因突变与心房颤动、长 QT 综合征、Brugada 综合征和原因不明的心脏性猝死有关。本文描述了一例 Brugada 综合征患者，携带 KCNE2 基因 [NM_172201.2:c.161 T>C, p.(Met54Thr, M54T)]的杂合变异。Ito 电流的功能获得可能解释了该病例 Brugada 心电图表型。
