[en] A 13-year-old girl with Jervell and Lange-Nielsen syndrome associated congenital long QT syndrome (LQTS) and central deafness was admitted for generalized seizures. LQTS had been diagnosed after birth and confirmed at genetic testing. β-blocker treatment was immediately started. Despite this, since the age of 12 months, recurrent cerebral seizures occurred leading to the diagnosis of epilepsy. Anti-convulsive therapy was initiated but without success. At the last admission, nadolol dosage seemed infratherapeutic. Considering malignant ventricular arrhythmias as the cause of seizures, the β-blocker dosage was adjusted to weight and levels of magnesium and potassium optimized. Furthermore, the patient received an implantable Medtronic Reveal LINQ Recorder®. Since then, the adolescent has been asymptomatic with no arrhythmia documented. LQTS is due to one or more mutations of genes coding for ion channels. It may induce malignant ventricular arrhythmias and is a major cause of sudden cardiac death in children. Generalized cerebral seizures are extra-cardiac manifestations caused by decreased cerebral perfusion during ventricular arrhythmia. They are commonly misinterpreted as manifestations of epilepsy. For any patient with known or unknown LQTS who presents seizures with resistance to anti-convulsive therapy, a cardiac electrophysiological investigation should be performed promptly to ensure etiological diagnosis and optimize treatment.
Disciplines :
Cardiovascular & respiratory systems Pediatrics
Author, co-author :
Levaux, Joachim ; Centre Hospitalier Universitaire de Liège - CHU
Farhat, Nesrine ; Centre Hospitalier Universitaire de Liège - CHU > > Service de pédiatrie
VAN CASTEREN, Lieve ; Centre Hospitalier Universitaire de Liège - CHU > > Service de cardiologie
BULK, Saskia ; Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Schwartz, P.J.; Stramba-Badiale, M.; Crotti, L.; Pedrazzini, M.; Besana, A.; Bosi, G.; Gabbarini, F.; Goulene, K.; Insolia, R.; Mannarino, S.; et al. Prevalence of the congenital long-qt syndrome. Circulation 2009, 120, 1761–1767. [CrossRef] [PubMed]
Kallergis, E.M.; Goudis, C.A.; Simantirakis, E.N.; Kochiadakis, G.E.; Vardas, P.E. Mechanisms, risk factors, and management of acquired long QT syndrome: A comprehensive review. Sci. World J. 2012, 2012, 212178. [CrossRef] [PubMed]
Shah, S.R.; Park, K.; Alweis, R. Long QT Syndrome: A Comprehensive Review of the Literature and Current Evidence. Curr. Probl. Cardiol. 2019, 44, 92–106. [CrossRef] [PubMed]
Obeyesekere, M.N.; Klein, G.J.; Modi, S.; Leong-Sit, P.; Gula, L.J.; Yee, R.; Skanes, A.C.; Krahn, A.D. How to perform and interpret provocative testing for the diagnosis of brugada syndrome, long-QT syndrome, and catecholaminergic polymorphic ventricular tachycardia. Circ. Arrhythmia Electrophysiol. 2011, 4, 958–964. [CrossRef] [PubMed]
Tranebjærg, L.; Samson, R.A.; Green, G.E. Jervell and Lange-Nielsen Syndrome. In GeneReviews® [Internet]; Adam, M.P., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Gripp, K.W., Amemiya, A., Eds.; University of Washington: Seattle, WA, USA, 1993.
Goyal, J.P.; Sethi, A.; Shah, V.B. Jervell and Lange-Nielson Syndrome masquerading as intractable epilepsy. Ann. Indian Acad. Neurol. 2012, 15, 145–147. [CrossRef] [PubMed]
Schwartz, P.J.; Ackerman, M.J. The long QT syndrome: A transatlantic clinical approach to diagnosis and therapy. Eur. Heart J. 2013, 34, 3109–3116. [CrossRef] [PubMed]
Schwartz, P.J.; Garson, A., Jr.; Paul, T.; Stramba-Badiale, M.; Vetter, V.; Villain, E.; Wren, C.; European Society of Cardiology. Guidelines for the interpretation of the neonatal electrocardiogram: A Task Force of the European Society of Cardiology. Eur. Heart J. 2002, 23, 1329–1344. [CrossRef] [PubMed]
Rijnbeek, P.; Witsenburg, M.; Schrama, E.; Hess, J.; Kors, J.A. New normal limits for the paediatric electrocardiogram. Eur. Heart J. 2001, 22, 702–711. [CrossRef] [PubMed]
Vyas, H.; Hejlik, J.; Ackerman, M.J. Epinephrine QT stress testing in the evaluation of congenital long-QT syndrome: Diagnostic accuracy of the paradoxical QT response. Circulation 2006, 113, 1385–1392. [CrossRef] [PubMed]
Bisignani, A.; De Bonis, S.; Mancuso, L.; Ceravolo, G.; Bisignani, G. Implantable loop recorder in clinical practice. J. Arrhythmia 2018, 35, 25–32. [CrossRef] [PubMed]
Priori, S.G.; Wilde, A.A.; Horie, M.; Cho, Y.; Behr, E.R.; Berul, C.; Blom, N.; Brugada, J.; Chiang, C.-E.; Huikuri, H.; et al. HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes: Document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart Rhythm 2013, 10, 1932–1963. [CrossRef] [PubMed]
Abu-Zeitone, A.; Peterson, D.R.; Polonsky, B.; McNitt, S.; Moss, A.J. Efficacy of different beta-blockers in the treatment of long QT syndrome. J. Am. Coll. Cardiol. 2014, 64, 1352–1358. [CrossRef] [PubMed]
Mazzanti, A.; Trancuccio, A.; Kukavica, D.; Pagan, E.; Wang, M.; Mohsin, M.; Peterson, D.; Bagnardi, V.; Zareba, W.; Priori, S.G.A. Independent validation and clinical implications of the risk prediction model for long QT syndrome (1-2-3-LQTS-Risk). Europace 2022, 24, 614–619. [CrossRef] [PubMed]