Sanecka Agnieszka, Biernacka Elzbieta Katarzyna, Sosna Magdalena, Mueller-Malesinska Malgorzata, Ploski Rafal, Skarzynski Henryk, Piotrowicz Ryszard
Institute of Cardiology, Warsaw, Poland.
Institute of Physiology and Pathology of Hearing, World Hearing Center, Nadarzyn, Poland.
Braz J Otorhinolaryngol. 2017 Mar-Apr;83(2):176-182. doi: 10.1016/j.bjorl.2016.02.008. Epub 2016 Apr 22.
Several studies have associated congenital sensorineural hearing loss in children with prolongation of the cardiac parameter QTc. The cause of this association is unknown. At the same time, mutations in GJB2, which encodes connexin 26, are the most common cause of congenital hearing impairment.
To compare electrocardiographic parameters (PR interval, QRS complex, and QTc interval) in patients with hearing loss who were tested for mutations in GJB2 and GJB6 to investigate whether these mutations affect electrical activity of the heart.
346 patients (176 males, 170 females) with sensorineural hearing loss of 30dB HL or more, aged 21.8±19.9 years (including 147 children <14 years), underwent both genetic study for GJB2 and GJB6 mutations and electrocardiography.
Mutations in GJB2, including homozygotes and heterozygotes, were found in 112 (32%) patients. There were no significant differences in ECG parameters between groups of patients with and without mutations in GJB2. No differences were observed either in men (mean PR with mutation: 155±16.6 vs. 153.6±30.1 without; QRS: 99.9±9.9 vs. 101.1±15.4; QTc: 414.9±29.9 vs. 412.4±25.7) or women (mean PR with: 148.7±21 vs. 143.8±22.8 without; QRS: 94.8±7.6 vs. 92.9±9.6; QTc: 416.8±20.6 vs. 424.9±22.8). In similar fashion, we did we find any significant differences between groups of children with and without GJB2 mutations (mean PR with: 126.3±19.6 vs. 127±19.7 without; QRS: 80.7±9.5 vs. 79.4±11.6; QTc: 419.7±23.5 vs. 419.8±24.8).
No association was found between the presence of GJB2 mutations encoding connexin 26 in patients with hearing loss and their ECG parameters (PR, QRS, QTc).
多项研究表明儿童先天性感音神经性听力损失与心脏参数QTc延长有关。这种关联的原因尚不清楚。同时,编码连接蛋白26的GJB2基因突变是先天性听力障碍最常见的原因。
比较进行GJB2和GJB6基因突变检测的听力损失患者的心电图参数(PR间期、QRS波群和QTc间期),以研究这些突变是否影响心脏电活动。
346例感音神经性听力损失30dB HL及以上的患者(176例男性,170例女性),年龄21.8±19.9岁(包括147例14岁以下儿童),接受了GJB2和GJB6基因突变的遗传学研究及心电图检查。
在112例(32%)患者中发现了GJB2突变,包括纯合子和杂合子。GJB2有突变和无突变的患者组之间的心电图参数无显著差异。男性(有突变者平均PR:155±16.6,无突变者为153.6±30.1;QRS:99.9±9.9对101.1±15.4;QTc:414.9±29.9对412.4±25.7)和女性(有突变者平均PR:148.7±21,无突变者为143.8±22.8;QRS:94.8±7.6对92.9±9.6;QTc:416.8±20.6对424.9±22.8)均未观察到差异。同样,有和无GJB2突变的儿童组之间也未发现任何显著差异(有突变者平均PR:126.3±19.6,无突变者为127±19.7;QRS:80.7±9.5对79.4±11.6;QTc:419.7±23.5对419.8±24.8)。
听力损失患者中编码连接蛋白26的GJB2突变与其心电图参数(PR、QRS、QTc)之间未发现关联。