[Long QT syndrome causing grand mal epilepsy: case report, pedigree, therapeutic options, and review of the literature].
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.
Betge
S
S
Klinik für Innere Medizin I, Universitätsklinikum der Friedrich-Schiller-Universität, Jena, Deutschland.
Schulze-Bahr
E
E
Fitzek
C
C
Pfeifer
R
R
Figulla
H-R
HR
Witte
O W
OW
Isenmann
S
S
D000328:Adult; D001925:Brain Damage, Chronic / Q000175:diagnosis / Q000235:genetics; D016887:Cardiopulmonary Resuscitation; D016757:Death, Sudden, Cardiac / Q000209:etiology; D003937:Diagnosis, Differential; D000072237:ERG1 Potassium Channel; D004562:Electrocardiography; D004569:Electroencephalography; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis / Q000209:etiology*; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics; D005260:Female; D006801:Humans; D002534:Hypoxia, Brain / Q000175:diagnosis / Q000235:genetics; D008133:Long QT Syndrome / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D009460:Neurologic Examination; D010375:Pedigree; D013575:Syncope / Q000175:diagnosis / Q000235:genetics*
D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human