Betge S, Schulze-Bahr E, Fitzek C, Pfeifer R, Figulla H-R, Witte O W, Isenmann S
Klinik für Innere Medizin I, Universitätsklinikum der Friedrich-Schiller-Universität, Jena, Deutschland.
Nervenarzt. 2006 Oct;77(10):1210-7. doi: 10.1007/s00115-006-2118-7.
A 24-year-old female with a history of epileptic seizures was admitted after prolonged cardiac resuscitation. The clinical course together with additional examinations led to the diagnosis of severe hypoxic cerebral damage, with poor prognosis for neurological outcome. In her initial ECG, as in the ECGs of several family members, QT prolongation was diagnosed. Meticulous history taking and ensuing genetic analysis led to the diagnosis of familial long QT syndrome (LQTS) with a mutation in the LQT-2 gene (HERG). In retrospect, the previous seizure episodes have to be considered cardiac syncopes. Two family members had previously died suddenly, and ECG and genetic analysis revealed that a total of eight family members were affected. These relatives were prophylactically treated with beta blockers or supplied with automated implantable cardioverter defibrillating devices. The literature concerning LQTS, diagnosis and prognosis of cerebral hypoxic damage, and differentiation between seizures and cardiac syncopes is discussed.
一名有癫痫发作病史的24岁女性在长时间心脏复苏后入院。临床病程及进一步检查诊断为严重缺氧性脑损伤，神经功能预后不良。在她最初的心电图以及几名家庭成员的心电图中，均诊断出QT间期延长。详细的病史采集及随后的基因分析诊断为家族性长QT综合征（LQTS），LQT-2基因（HERG）存在突变。回顾既往，之前的发作性事件应考虑为心源性晕厥。两名家庭成员此前突然死亡，心电图及基因分析显示共有八名家庭成员受累。这些亲属接受了β受体阻滞剂预防性治疗或植入了自动植入式心律转复除颤器。本文讨论了有关LQTS、脑缺氧损伤的诊断和预后以及癫痫发作与心源性晕厥鉴别的文献。
