Kang Huicong, Lan Lili, Jia Yuchao, Li Cun, Fang Yongkang, Zhu Suiqiang, Kirsch Heidi
Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jiefang Blvd., Wuhan, 430030, Hubei Province, China.
Department of Neurology and Radiology & Biomedical Imaging, Epilepsy Center, University of California, San Francisco, California, 94143-0628, USA.
BMC Neurol. 2021 Sep 4;21(1):338. doi: 10.1186/s12883-021-02365-8.
Epileptic seizures can be difficult to distinguish from other etiologies that cause cerebral hypoxia, especially cardiac diseases. Long QT syndrome (LQTS), especially LQTS type 2 (LQT2), frequently masquerades as seizures because of the transient cerebral hypoxia caused by ventricular arrhythmia. The high rate of sudden death in LQTS highlights the importance of accurate and early diagnosis; correct diagnosis of LQTS also prevents inappropriate treatment with anti-epileptic drugs (AEDs).
We report a case of congenital LQT2 with potassium voltage-gated channel subfamily H member 2 gene (KCNH2) mutation misdiagnosed as refractory epilepsy and treated with various AEDs for 22 years. The possibility of cardiac arrhythmia was suspected after the patient presented to the emergency room and the electrocardiograph (ECG) monitor showed paroxysmal ventricular tachycardia during attacks. Atypical seizure like attacks with prodromal uncomfortable chest sensation and palpitation, triggered by auditory stimulation, and typical ventricular tachycardia monitored by ECG raised suspicion for LQT2, which was confirmed by exome sequencing and epileptic seizure was ruled out by 24-h EEG monitoring. Although the patient rejected implantation of an implantable cardioverter defibrillator, β blocker was given and the syncope only attacked 1-2 per year when there was an incentive during the 5 years follow up.
Our case illustrates how long LQTS can masquerade convincingly as epilepsy and can be treated wrongly with AEDs, putting the patient at high risk of sudden cardiac death. Careful ECG evaluation is recommend for both patients with first seizure and those with refractory epilepsy.
癫痫发作可能难以与其他导致脑缺氧的病因区分开来，尤其是心脏疾病。长QT综合征（LQTS），尤其是2型长QT综合征（LQT2），由于室性心律失常导致的短暂性脑缺氧，常表现为癫痫发作。LQTS患者的高猝死率凸显了准确早期诊断的重要性；正确诊断LQTS还可避免抗癫痫药物（AEDs）的不恰当治疗。
我们报告一例先天性LQT2患者，其钾离子电压门控通道亚家族H成员2基因（KCNH2）发生突变，被误诊为难治性癫痫，并接受了各种AEDs治疗22年。患者就诊于急诊室后，心电图（ECG）监测显示发作期间阵发性室性心动过速，此时怀疑有心律失常的可能。由听觉刺激引发的伴有前驱性胸部不适和心悸的非典型癫痫样发作，以及ECG监测到的典型室性心动过速，引起了对LQT2的怀疑，外显子测序证实了这一点，24小时脑电图监测排除了癫痫发作。尽管患者拒绝植入植入式心脏复律除颤器，但给予了β受体阻滞剂，在5年的随访中，只有在有诱因时晕厥每年发作1 - 2次。
我们的病例说明了LQTS可以多么令人信服地伪装成癫痫，并可能被AEDs错误治疗，使患者处于心脏性猝死的高风险中。对于首次发作的患者和难治性癫痫患者，建议进行仔细的ECG评估。
