TY - JOUR
T1 - The Phenotype Characteristics of Type-13 Long QT Syndrome with mutation in KCNJ5 (Kir3.4-G387R)
AU - Wang, Fan
AU - Liu, Jinqiu
AU - Hong, Li
AU - Liang, Bo
AU - Graff, Claus
AU - Yang, Yanzong
AU - Christiansen, Michael
AU - Olesen, Søren-Peter
AU - Zhang, Li
AU - Kanters, Jørgen K.
N1 - Copyright © 2013. Published by Elsevier Inc.
PY - 2013/10
Y1 - 2013/10
N2 - Background Long QT syndrome type 13 (LQT13) is caused by loss-of-function mutation in the KCNJ5-encoded cardiac G-protein-coupled inward rectifier potassium channel subtype 4 protein. The electrocardiographic (ECG) features of LQT13 are not described yet. Objective To describe for the first time in detail the phenotype-genotype relationship of the ECG and clinical features in patients with LQT13. Methods The 12-lead ECGs, 24-hour Holter recordings, and clinical information from KCNJ5-G387R mutation carriers of a fourth-generation Han Chinese family with LQT13 and a group of healthy Chinese individuals were analyzed. Results Compared with the analysis of the healthy group (n = 8), age- and sex-matched pair analysis revealed that the mutation carriers (n = 8) had ventricular repolarization abnormality results in the prolongation of corrected QT and QTpeak intervals (P <.01); greater combined measure of repolarization morphology (T-wave morphology combination score) based on asymmetry, flatness, and notch (P <.01); and reduced low frequency/high frequency ratio of heart rate variability (P <.01) as a reflection of cardiac autonomic imbalance. Mean heart rate, time domain parameters of heart rate variability, time interval from T-wave peak to T-wave end, and T-wave amplitude were similar. Conclusions This study demonstrates for the first time the ECG features of patients with LQT13. Our data suggest that QTpeak intervals and T-wave morphology combination score may be the better parameters than the corrected QT interval to predict the phenotype-genotype relationship in patients with LQT13.
AB - Background Long QT syndrome type 13 (LQT13) is caused by loss-of-function mutation in the KCNJ5-encoded cardiac G-protein-coupled inward rectifier potassium channel subtype 4 protein. The electrocardiographic (ECG) features of LQT13 are not described yet. Objective To describe for the first time in detail the phenotype-genotype relationship of the ECG and clinical features in patients with LQT13. Methods The 12-lead ECGs, 24-hour Holter recordings, and clinical information from KCNJ5-G387R mutation carriers of a fourth-generation Han Chinese family with LQT13 and a group of healthy Chinese individuals were analyzed. Results Compared with the analysis of the healthy group (n = 8), age- and sex-matched pair analysis revealed that the mutation carriers (n = 8) had ventricular repolarization abnormality results in the prolongation of corrected QT and QTpeak intervals (P <.01); greater combined measure of repolarization morphology (T-wave morphology combination score) based on asymmetry, flatness, and notch (P <.01); and reduced low frequency/high frequency ratio of heart rate variability (P <.01) as a reflection of cardiac autonomic imbalance. Mean heart rate, time domain parameters of heart rate variability, time interval from T-wave peak to T-wave end, and T-wave amplitude were similar. Conclusions This study demonstrates for the first time the ECG features of patients with LQT13. Our data suggest that QTpeak intervals and T-wave morphology combination score may be the better parameters than the corrected QT interval to predict the phenotype-genotype relationship in patients with LQT13.
U2 - 10.1016/j.hrthm.2013.07.022
DO - 10.1016/j.hrthm.2013.07.022
M3 - Journal article
C2 - 23872692
SN - 1547-5271
VL - 10
SP - 1500
EP - 1506
JO - Heart Rhythm
JF - Heart Rhythm
IS - 10
ER -