Zusammenfassung
Eine 24-jährige Patientin mit bekannter Grand-Mal-Epilepsie wurde nach prolongierter Reanimation eingewiesen. Klinik und Zusatzdiagnostik erbrachten einen schweren hypoxischen Hirnschaden mit Abschätzung einer schlechten Prognose hinsichtlich des neurologischen Langzeitergebnisses. Diese bestätigte sich im weiteren Verlauf über zwei Jahre. Bei verlängerter QT-Zeit im EKG und genauer Anamneseerhebung mussten die vormaligen Ereignisse als kardiale Synkopen bei Long-QT-Syndrom (LQTS) gedeutet werden. Die in solchen Fällen zwingend notwendige Anamneseerhebung, EKG-Registrierung und molekulargenetische Analyse bei den Familienmitgliedern ergab die Diagnose eines familiären LQTS in 8 Fällen, in 2 Fällen bereits mit bis dahin ungeklärtem plötzlichem Herztod. Zur Prophylaxe weiterer Ereignisse wurden betroffene Familienangehörige mit β-Blockern behandelt bzw. mit AICD-Aggregaten (automatischer implantierbarer Kardioverter-Defibrillator) versorgt. Die aktuelle Literatur hinsichtlich des LQTS, der Differenzierung der kardialen Synkope zur Epilepsie sowie der Einschätzung der Prognose eines hypoxischen Hirnschadens werden diskutiert.
Summary
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.
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Betge, S., Schulze-Bahr, E., Fitzek, C. et al. Long-QT-Syndrom als Differenzialdiagnose einer Grand-Mal-Epilepsie. Nervenarzt 77, 1210–1217 (2006). https://doi.org/10.1007/s00115-006-2118-7
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DOI: https://doi.org/10.1007/s00115-006-2118-7