Bhattacharya Deepanjan, Namboodiri Narayanan, Sreelekshmi Madhusoodanan Pillai, Prabhu Mukund A, Sreevilasam Pushpangadhan Abhilash, Menon Sabarinath, Dharan Baiju S, Valaparambil Ajitkumar
Department of Cardiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Department of Cardiovascular and Thoracic Surgery, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Pacing Clin Electrophysiol. 2023 Oct;46(10):1197-1202. doi: 10.1111/pace.14827. Epub 2023 Sep 20.
Long QT syndrome is an inherited malignant channelopathy which leads to life-threatening arrhythmia, with multiple genotypes. Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive subtype of this disease, characterized by congenital sensorineural deafness and a high incidence of sudden cardiac death (SCD).
We prospectively followed up six children who underwent left cardiac sympathetic denervation (LCSD) for JLNS in view of high-risk features despite being on maximally tolerated doses of oral propranolol.
Mean age at diagnosis was 2.75 ± 0.39 years, with a significant delay between onset of symptoms and diagnosis (mean 7.2 ± 3.5 months). All had sensorineural hearing loss, conforming to the JLNS phenotype. Mean QTc interval was 603 ± 93 ms, with T wave alternans (TWA) seen in all cases. All were started on propranolol and subsequently subjected to LCSD, and 3 underwent AAI permanent pacemaker implantation. Over a mean follow-up of 20 months, there was a significant reduction in QTc (603 ± 93 ms to 501 ± 33 ms, p = .04), which was persistent on follow-up (525 ± 41 ms) and only two out of six had persistent T wave alternans on ECG (p < .01). None of these children had presyncope, syncope, seizures, torsades de pointes, cardiac arrest or death on follow up following LCSD.
Jervell Lange-Nielsen syndrome is a subtype of LQTS with high-risk features. LCSD, an effective therapeutic option for those having symptoms despite being on propranolol, results in significant reduction of QTc interval and amelioration of symptoms.
长QT综合征是一种遗传性恶性通道病，可导致危及生命的心律失常，有多种基因型。杰韦尔和朗格-尼尔森综合征（JLNS）是该病的一种常染色体隐性亚型，其特征为先天性感音神经性耳聋和心脏性猝死（SCD）的高发病率。
鉴于尽管已服用最大耐受剂量的口服普萘洛尔仍存在高危特征，我们对6例因JLNS接受左心交感神经去神经术（LCSD）的儿童进行了前瞻性随访。
诊断时的平均年龄为2.75±0.39岁，症状出现与诊断之间有显著延迟（平均为7.2±3.5个月）。所有患儿均有感音神经性听力损失，符合JLNS表型。平均QTc间期为603±93毫秒，所有病例均可见T波交替（TWA）。所有患儿均开始服用普萘洛尔，随后接受LCSD，其中3例接受了AAI永久性起搏器植入。在平均20个月的随访中，QTc有显著降低（从603±93毫秒降至501±33毫秒，p = 0.04），随访时仍持续降低（525±41毫秒），6例患儿中只有2例心电图上仍有持续性T波交替（p < 0.01）。这些患儿在LCSD后的随访中均未出现先兆晕厥、晕厥、癫痫、尖端扭转型室速、心脏骤停或死亡。
杰韦尔-朗格-尼尔森综合征是长QT综合征的一种高危亚型。LCSD是那些尽管服用普萘洛尔仍有症状的患者的一种有效治疗选择，可显著降低QTc间期并改善症状。
