Electrical and autonomic cardiac function in patients with Dravet syndrome
Electrical and autonomic cardiac function in patients with Dravet syndrome
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DOI：
10.1111/j.1528-1167.2011.03003.x
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发表时间：
2011-04-01
期刊：
影响因子：
5.6
通讯作者：
Crea, Filippo
中科院分区：
文献类型：
--
作者：
Delogu, Angelica B.;Spinelli, Antonella;Crea, Filippo
Dravet综合征（DS）是一种癫痫性脑病，主要与编码神经元钠通道的SCN 1A基因突变有关。DS患者发生癫痫猝死（SUDEP）的风险很高。在这项研究中，我们调查了DS患者是否存在电和自主心脏功能异常。为此，我们分别在标准心电图（ECG）和24小时ECG霍尔特监测中评估了20例DS患者（6.8 ± 4岁，11例女性）的心室复极和心率变异性（HRV）。作为年龄和性别匹配的对照组，我们还研究了20例接受抗癫痫药物治疗的其他癫痫综合征患者（ES/AED，6.0 +/- 5岁，12例女性），20例未经治疗的其他癫痫综合征患者（ES/无AED，6.7 +/- 4岁，10例女性）和20例健康儿童（HC，7.2 +/- 5岁，11例女性）。数据分析显示，DS患者HRV各变量均低于ES患者（ES/AED和ES/no-AED）和HC对照组，而ES患者（治疗组和未治疗组）与HC之间HRV各变量无显著差异。在RR间期、QT和QTc间期分析中，DS患者与所有其他对照组之间无显著差异。总之，与健康儿童和其他形式的癫痫患者相比，DS患者显示心脏自主神经功能不平衡，肾上腺素能紧张相对占优势，独立于抗癫痫治疗。后续研究应阐明这种自主神经功能损害的临床意义，以及HRV分析是否有助于预测DS患者的猝死风险。
P>Dravet syndrome (DS) is an epileptic encephalopathy related mainly to mutations in the SCN1A gene, encoding for neuronal sodium channels. Patients with DS have a high risk of sudden unexpected death in epilepsy (SUDEP). In this study we investigated whether patients with DS present abnormalities in electrical and autonomic cardiac function. To this aim we assessed ventricular repolarization and heart rate variability (HRV) on standard electrocardiography (ECG) and on 24-h ECG Holter monitoring, respectively, in 20 patients affected by DS (6.8 +/- 4 years, 11 female). As age- and sex-matched control groups, we also studied 20 patients with other epileptic syndromes receiving antiepileptic drugs (ES/AED, 6.0 +/- 5 years, 12 female), 20 patients with other epileptic syndromes without treatment (ES/no-AED, 6.7 +/- 4 years, 10 female), and 20 healthy children (HC, 7.2 +/- 5 years, 11 females). Data analysis showed that patients with DS had depressed HRV variables compared to both ES patients (ES/AED and ES/no-AED) and HC control group, whereas no significant differences in HRV variables were found between ES patients (with and without treatment) and HC. There was no significant difference between patients with DS and all the other control groups in RR intervals, QT, and QTc interval analysis. In conclusion, DS patients display an imbalance of cardiac autonomic function toward a relative predominance of adrenergic tone compared to both healthy children and patients with other forms of epilepsy, independent of antiepileptic therapy. Follow-up studies should clarify the clinical significance of this autonomic impairment and whether HRV analysis can be helpful in predicting the risk of sudden death in patients with DS.