Jorge Cláudia, Marques João Silva, Veiga Arminda, Nóbrega João, Cruz Jorge, Peralta Rita, Correia Maria José, de Sousa João, Miltenberger-Miltényi Gábriel, Nunes Diogo António
Serviço de Cardiologia I, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal.
Rev Port Cardiol. 2011 Dec;30(12):929-35. doi: 10.1016/j.repc.2011.10.003. Epub 2011 Nov 21.
Congenital long QT syndrome (LQTS) can present as syncope or seizures, secondary to polymorphic ventricular tachycardia, mimicking a primary seizure disorder. In patients treated with an implantable cardioverter-defibrillator (ICD), the recurrence of arrhythmias with subsequent frequent therapeutic shocks may cause adverse reactions, which can be psychogenic. We report the case of a 22-year-old woman with syncope and seizures who was diagnosed in childhood as epileptic and in whom LQTS was diagnosed only in adulthood. Beta-blocker therapy failed and an ICD was implanted. However, as arrhythmias persisted, left cardiac sympathetic denervation was performed. After surgery, three-month follow-up showed a significant reduction in arrhythmias. The genetic study identified a heterozygous mutation, c.1817 C>T p.S606F, on the KCNH2 gene that has not previously been reported in the literature. We also report the rare occurrence of an electrical storm in the course of H1N1 infection. This case illustrates the difficulties in the diagnosis and treatment of LQTS. The possibility of a common genetic basis for arrhythmic diseases and epilepsy is discussed.
先天性长QT综合征（LQTS）可表现为晕厥或癫痫发作，继发于多形性室性心动过速，易被误诊为原发性癫痫疾病。对于接受植入式心脏复律除颤器（ICD）治疗的患者，心律失常复发并随后频繁接受治疗性电击可能会引起不良反应，这种反应可能是心因性的。我们报告了一名22岁女性的病例，该患者有晕厥和癫痫发作，童年时被诊断为癫痫，直到成年才被诊断出患有LQTS。β受体阻滞剂治疗无效，遂植入了ICD。然而，由于心律失常持续存在，患者接受了左侧心脏交感神经去神经支配术。术后三个月的随访显示心律失常显著减少。基因研究在KCNH2基因上发现了一个杂合突变，即c.1817 C>T p.S606F，此前文献中尚未有过报道。我们还报告了在甲型H1N1感染过程中罕见的电风暴发生情况。该病例说明了LQTS诊断和治疗中的困难。文中还讨论了心律失常疾病和癫痫存在共同遗传基础的可能性。
