Comorbid Epilepsy and Developmental Disorders in Congenital Long QT SyndromeWith Life-Threatening PerinatalArrhythmias.
Comorbid Epilepsy and Developmental Disorders in Congenital Long QT SyndromeWith Life-Threatening PerinatalArrhythmias.
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DOI：
10.1016/j.jacep.2015.10.010
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发表时间：
2016-06-01
期刊：
影响因子：
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通讯作者：
Ohuchi, Hideo
中科院分区：
文献类型：
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作者：
Miyazaki, Aya;Sakaguchi, Heima;Ohuchi, Hideo
目的：考虑到长QT综合征（LQTS）与神经系统疾病的相关性，我们推测，更严重的LQTS表型，即围产期LQTS，与无围产期心律失常的LQTS相比，将表现出更频繁的共病神经发育异常背景：先天性LQTS伴危及生命的围产期心律失常（围产期LQTS）有不良的生活预后。二十-在我们的机构中，1例连续的1岁以前诊断的LQTS患者和3例以前报告的围产期LQTS患者神经性癫痫发作，注册了结果：21例LQTS患儿中，6例围产期LQTS患儿中，5例（83%）诊断为癫痫，4例（67%）诊断为发育障碍，非围产期LQTS患儿中无一例诊断为癫痫。金德婴儿发育量表评分的总发育商为17 ~ 72（中位数67）。在8例围产期LQTS患者中，包括3例既往报告的病例，癫痫发作发生在2天至2.5岁，5例有发育障碍。8例LQTS患者的突变位于KCNH 2跨膜环、SCN 5A的D3/S4-S5连接子、D4/S4或D4/S6片段。结论：围产期LQTS患者存在神经发育异常的高共病率。神经系统合并症患者的突变位于与具有严重心脏表型的LQTS相关的基因座上。这些观察结果表明，围产期LQTS的神经系统疾病表现为与严重心脏表型相关的神经系统表型的可能性，而我们不能完全排除另一种可能性，即这些是由脑灌注损伤引起的。
OBJECTIVES: Given the association of long QT syndrome (LQTS) and neurological disorders, we speculated that the more severe LQTS phenotype, perinatal LQTS, would exhibit more frequent comorbid neurodevelopmental anomalies than LQTS without perinatal arrhythmias (nonperinatal LQTS).BACKGROUND: Congenital LQTS with life-threatening perinatal arrhythmias (perinatal LQTS) has a poor life prognosis.METHODS: Twenty-one consecutive LQTS patients diagnosed before 1 year of age at our institution and 3 previously reported perinatal LQTS patients with neurological seizures were enrolled. In total, the clinical course was evaluated in 24patients.RESULTS: Among 21 infantile LQTS patients, 5 of 6 with perinatal LQTS (83%) were diagnosed with epilepsy and 4 (67%) with developmental disorders, but none with nonperinatal LQTS were. The total development quotient by Kinder Infant Development Scale scores was 17 to 72 (median 67) in 5 epileptic perinatal LQTS. Inthe 8 perinatal LQTS patients with neurological disorders, including 3 previously reported cases, epileptic seizures occurred at 2 days to 2.5 years of age and 5 had developmental disorders. Mutations in these 8patients were located in the transmembrane loop of KCNH2, and D3/S4-S5 linker, D4/S4, or the D4/S6 segment of SCN5A.CONCLUSIONS: A high comorbidity of neurodevelopmental anomalies was observed in perinatal LQTS. Mutations in patients with neurological comorbidities were in loci linked to LQTS with a severe cardiac phenotype. These observations indicate the possibility that neurological disorders in perinatal LQTS are manifested as neurological phenotypes associated with severe cardiac phenotypes, while we could not completely exclude another possibility that those were causedby a brain perfusion injury.