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[Long QT syndrome presented as epilepsy]
A Medina- Villanueva1, C Rey- Galán, A Concha-Torre
1Hospital Central de Asturias, Oviedo, España. jmedina@hcas.insalud.es
Insights
Long QT syndrome can mimic epilepsy, leading to misdiagnosis. Early diagnosis through ECG and genetic studies is crucial for preventing fatal arrhythmias and sudden cardiac death.
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Long QT syndrome (LQTS) is a cardiac repolarization disorder causing ventricular arrhythmias.
- Cerebral hypoxia from arrhythmias can manifest as fainting and convulsions, mimicking epilepsy.
Observation:
- A pediatric case of isolated congenital LQTS initially misdiagnosed as idiopathic epilepsy presented with sudden loss of consciousness during exercise.
- Electrocardiogram revealed torsades de pointes ventricular tachycardia, successfully treated with resuscitation maneuvers.
Findings:
- Despite resuscitation, the patient developed absent electrical brain activity and brain death 12 days post-admission.
- This case underscores the critical importance of accurate LQTS diagnosis due to its high mortality.
Implications:
- Implementing detailed clinical history, simultaneous ECG and EEG, and 24-hour continuous EEG monitoring can identify unsuspected LQTS cases.
- Family studies, including genetic mutation analysis, offer a novel approach for early LQTS diagnosis and intervention.
Introduction:
Long QT syndrome is characterised by an alteration in cardiac repolarisation that brings about ventricular arrhythmias. The resulting cerebral hypoxia leads to fainting and convulsions that, in up to 10% of cases, are interpreted as epilepsy.
Case Report:
We report the case of a patient of paediatric age who was affected by an isolated presentation of congenital long QT syndrome, which had initially been diagnosed as idiopathic epilepsy, and who suffered a sudden loss of consciousness while doing exercise. The initial electrocardiographic monitoring revealed a ventricular tachycardia in torsades de pointes, which was reversed by advanced cardiopulmonary revival manoeuvres. At 12 days after admission, there was an absence of electrical brain activity and brain death resulted.
Conclusion:
The high mortality among symptomatic patients affected by long QT syndrome and the effectiveness of the treatment highlight the importance of a correct diagnosis. A detailed clinical history and an electroencephalogram with a simultaneous electrocardiogram (ECG) recording, together with continuous EEG recording for 24 hours, with the manual evaluation of the corrected QT, would all help in the identification of unsuspected cases. A complete study of the family, including the possible associated mutations, could be a new form of early diagnosis.