Robinson Jeffrey A, Bos J Martijn, Etheridge Susan P, Ackerman Michael J
Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minn, USA.
Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minn, USA.
Congenit Heart Dis. 2015 Jul-Aug;10(4):354-61. doi: 10.1111/chd.12262. Epub 2015 Apr 27.
Long QT syndrome (LQTS) is a genetic heart rhythm disorder that may present with syncope, seizures, or sudden cardiac death. Breath holding spells (BHS) occur in 5% of all children and have been noted in children with LQTS anecdotally. The purpose of this study was to determine the frequency of BHS in children diagnosed with LQTS at ≤5 years of age.
A retrospective review was performed to identify children diagnosed with LQTS who were ≤5 years old at initial presentation to our LQTS clinic from August 1999 to November 2013. The mean length of follow-up was 6.4 ± 2.8 years. The electronic medical records were reviewed for clinical presentation of BHS, as well as LQTS-associated symptoms, diagnostic tests, and treatment.
The study cohort consisted of 115 children with LQTS (58% male; median age at diagnosis, 11 months [range, birth to 5 years]; mean corrected QT interval (QTc), 478 ± 60 milliseconds). At presentation, 80% of patients were asymptomatic. Genetic testing revealed type 1 LQTS (LQT1) in 48%. Overall, 5 of 115 patients (4.3%) had BHS (2 of 5 [40%] male, mean QTc: 492 ± 14 milliseconds, 4 [80%] with family history of LQTS). BHS were the presenting symptom in 1 of 23 symptomatic patients (4.3%). All BHS occurred in patients with LQT1 (P = .02).
Although BHS among children with LQTS are relatively rare and occur at similar frequency as the general population, they can be the presenting symptom for a heart rhythm disorder. Careful attention to BHS is important to distinguish an innocent BHS from a potential LQTS-triggered cardiac event so that proper treatment is initiated.
长QT综合征（LQTS）是一种遗传性心律失常疾病，可能表现为晕厥、癫痫发作或心源性猝死。屏气发作（BHS）在所有儿童中发生率为5%，在LQTS儿童中也有零星报道。本研究的目的是确定5岁及以下被诊断为LQTS的儿童中BHS的发生率。
进行一项回顾性研究，以确定1999年8月至2013年11月首次到我们的LQTS诊所就诊时年龄≤5岁的被诊断为LQTS的儿童。平均随访时间为6.4±2.8年。查阅电子病历，了解BHS的临床表现以及LQTS相关症状、诊断检查和治疗情况。
研究队列包括115例LQTS儿童（58%为男性；诊断时的中位年龄为11个月[范围，出生至5岁]；平均校正QT间期（QTc）为478±60毫秒）。就诊时，80%的患者无症状。基因检测显示48%为1型LQTS（LQT1）。总体而言，115例患者中有5例（4.3%）发生BHS（5例中有2例[40%]为男性，平均QTc：492±14毫秒，4例[80%]有LQTS家族史）。BHS是23例有症状患者中1例（4.3%）的首发症状。所有BHS均发生在LQT1患者中（P = 0.02）。
尽管LQTS儿童中的BHS相对罕见，且发生率与普通人群相似，但它们可能是心律失常疾病的首发症状。仔细关注BHS对于区分单纯的BHS与潜在的由LQTS引发的心脏事件非常重要，以便启动适当的治疗。
