Sanecka Agnieszka, Biernacka Elżbieta Katarzyna, Szperl Małgorzata, Sosna Magdalena, Mueller-Malesińska Małgorzata, Kozicka Urszula, Baranowski Rafał, Kosiec Agnieszka, Łazarczyk Hubert, Skarżyński Henryk, Hoffman Piotr, Bieganowska Katarzyna, Piotrowicz Ryszard
Department and Clinic of Cardiac Rehabilitation and Noninvasive Electrocardiology, Institute of Cardiology, Warsaw, Poland.
Cardiol J. 2016;23(1):34-41. doi: 10.5603/CJ.a2015.0062. Epub 2015 Sep 28.
The aim of the study was to determine, whether electrocardiogram (ECG) screening could reduce the risk of sudden cardiac death in patients with hearing loss through the early diagnosis of Jervell and Lange-Nielsen syndrome and the introduction of the therapy.
One thousand and eighty patients with hearing loss (aged 21.8 ± 19.9 years) underwent ECG. Additionally, all subjects were asked to complete a 3-question survey. Those who met, at least, one of the high-risk criteria underwent further cardiac assessment and genetic testing.
QTc assessment was possible in 1,027 patients. Mean QTc measured 422.8 ± 23.7 ms in 313 women, 414.9 ± 27.7 ms in 273 men and 421.1 ± 21.5 ms in 441 children (individuals younger than 14 years). Abnormal QTc was found in 13 (4.1%) women, 20 (7.3%) men, and 72 (16.3%) children. In the studied group, no recessive mutation of KNCQ1 or KCNE1 was found. In 6 patients, other mutations were found: in KCNQ1 (n = 1), in KCNH2 (n = 3) and in SCN5A (n = 1), which were pathogenic for long-QT-syndromes (LQTS), and 2 mutations of unknown clinical significance in SCN5A. Overall, out of these 6 patients LQTS was diagnosed in 3 asymptomatic patients, but with abnormal QTc and in 2 patients with normal QTc, but who were previously treated for epilepsy.
Jervell and Lange-Nielsen syndrome is a very rare condition even in a population with hearing loss. In this population, the prevalence of prolonged QT interval is increased over the general population. Further investigations are necessary.
本研究的目的是确定心电图（ECG）筛查能否通过早期诊断Jervell和Lange-Nielsen综合征并引入治疗方法，降低听力损失患者心源性猝死的风险。
1080例听力损失患者（年龄21.8±19.9岁）接受了心电图检查。此外，所有受试者都被要求完成一项包含3个问题的调查。那些至少符合一项高危标准的患者接受了进一步的心脏评估和基因检测。
1027例患者可进行QTc评估。313名女性的平均QTc为422.8±23.7毫秒，273名男性为414.9±27.7毫秒，441名儿童（14岁以下个体）为421.1±21.5毫秒。13名（4.1%）女性、20名（7.3%）男性和72名（16.3%）儿童的QTc异常。在研究组中，未发现KNCQ1或KCNE1的隐性突变。在6名患者中发现了其他突变：KCNQ1中有1例，KCNH2中有3例，SCN5A中有1例，这些突变对长QT综合征（LQTS）具有致病性，SCN5A中有2例临床意义不明的突变。总体而言，在这6名患者中，3名无症状但QTc异常的患者以及2名QTc正常但曾接受癫痫治疗的患者被诊断为LQTS。
即使在听力损失人群中，Jervell和Lange-Nielsen综合征也是一种非常罕见的疾病。在该人群中，QT间期延长的患病率高于一般人群。有必要进行进一步的研究。
