Annals of Emergency Medicine
Volume 54, Issue 1 , Pages 26-32 , July 2009

Misdiagnosis of Long QT Syndrome as Epilepsy at First Presentation

  • Judith M. MacCormick, MBChB

      Affiliations

    • Green Lane Paediatric and Congenital Cardiac Service, Starship Children's Hospital, Auckland, New Zealand
    • Cardiac Inherited Diseases Group, New Zealand
  • ,
  • Hugh McAlister, FCSANZ

      Affiliations

    • Cardiac Inherited Diseases Group, New Zealand
    • Department of Cardiology, Waikato Hospital, Hamilton, New Zealand
  • ,
  • Jackie Crawford, NZCS

      Affiliations

    • Green Lane Paediatric and Congenital Cardiac Service, Starship Children's Hospital, Auckland, New Zealand
    • Cardiac Inherited Diseases Group, New Zealand
  • ,
  • John K. French, PhD

      Affiliations

    • Cardiac Inherited Diseases Group, New Zealand
    • Department of Cardiology, Liverpool Hospital, Sydney, New South Wales, Australia
  • ,
  • Ian Crozier, MD

      Affiliations

    • Cardiac Inherited Diseases Group, New Zealand
    • Department of Cardiology, Christchurch Hospital, New Zealand
  • ,
  • Andrew N. Shelling, PhD

      Affiliations

    • Cardiac Inherited Diseases Group, New Zealand
    • Department of Obstetrics and Gynaecology, University of Auckland, Auckland, New Zealand
  • ,
  • Carey-Anne Eddy, MSc (Med)

      Affiliations

    • Cardiac Inherited Diseases Group, New Zealand
    • Department of Obstetrics and Gynaecology, University of Auckland, Auckland, New Zealand
  • ,
  • Mark I. Rees, PhD

      Affiliations

    • Cardiac Inherited Diseases Group, New Zealand
    • Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand
    • School of Medicine, University of Wales Swansea, Swansea, Wales, United Kingdom
  • ,
  • Jonathan R. Skinner, MD

      Affiliations

    • Green Lane Paediatric and Congenital Cardiac Service, Starship Children's Hospital, Auckland, New Zealand
    • Cardiac Inherited Diseases Group, New Zealand
    • Corresponding Author InformationAddress for correspondence: J. R. Skinner, MD, Green Lane Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Level 3, Building 32, Private Bag 92 029, Auckland, New Zealand; 64-9-307-4949, fax 64-9-631-0785

Received 22 June 2008 ,Revised 18 January 2009 ,Accepted 26 January 2009.

References 

  1. Ballardie FW, Murphy RP, Davis J. Epilepsy: a presentation of the Romano-Ward syndrome. Br Med J (Clin Res Ed). 1983;287:896–897
  2. O'Callaghan CA, Trump D. Prolonged QT syndrome presenting as epilepsy. Lancet. 1993;341:759–760
  3. Herman LL, Stoshak M, Rittenberry TJ. Long QT syndrome presenting as a seizure. Am J Emerg Med. 1992;10:435–438
  4. Moss AJ, Schwartz PJ, Crampton RS, et al. The long QT syndrome (Prospective longitudinal study of 328 families). Circulation. 1991;84:1136–1144
  5. Skinner J, Chong B, Fawkner M, et al. Use of the newborn screening card to define cause of death in a 12-year-old diagnosed with epilepsy. J Paediatr Child Health. 2004;40:651–653
  6. Schwartz PJ. Idiopathic long QT syndrome: progress and questions. Am Heart J. 1985;109:399–411
  7. Zareba W, Moss AJ, Daubert JP, et al. Implantable cardioverter defibrillator in high-risk long QT syndrome patients. J Cardiovasc Electrophysiol. 2003;14:337–341
  8. Schwartz PJ, Priori SG, Cerrone M, et al. Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome. Circulation. 2004;109:1826–1833
  9. Schwartz PJ, Locati EH, Moss AJ, et al. Left cardiac sympathetic denervation in the therapy of congenital long QT syndrome (A worldwide report). Circulation. 1991;84:503–511
  10. Moss AJ, Zareba W, Hall WJ, et al. Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation. 2000;101:616–623
  11. Chung S-K, MacCormick JM, McCulley CH, et al. Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007;4:1306–1314
  12. Bazett H. An analysis of the time relations of electrocardiograms. Heart. 1920;7:353–367
  13. Monnig G, Eckardt L, Wedekind H, et al. Electrocardiographic risk stratification in families with congenital long QT syndrome. Eur Heart J. 2006;27:2074–2080
  14. Skinner JR, Yang T, Purvis D, et al. Coinheritance of long QT syndrome and Kearns-Sayre syndrome. Heart Rhythm. 2007;4:1568–1572
  15. Jervell A, Lange-Neilson F. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J. 1957;54:59–68
  16. Romano C, Gemme G, Pongiglione R. Aritmie cardiache rare dell'eta pediatrica (II. Accessi sincopali per febrillazione ventricolare parossistica). Clin Pediatr (Bologna). 1963;45:656–683
  17. Ward O. New familial cardiac syndrome in children. J Irish Med Assoc. 1964;54:103–106
  18. Keating M, Atkinson D, Dunn C, et al. Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. Science. 1991;252:704–706
  19. Splawski I, Shen J, Timothy KW, et al. Spectrum of mutations in long QT syndrome genes. Circulation. 2000;102:1178–1185
  20. Jongbloed R, Marcelis C, Velter C, et al. DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat. 2002;20:383–391
  21. Liu W, Yang J, Hu D, et al. KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. Hum Mutat. 2002;20:475–476
  22. Tester DJ, Will ML, Haglund CM, et al. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005;2:507–517
  23. Napolitano C, Priori SG, Schwartz PJ, et al. Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005;294:2975–2980
  24. Schwartz PJ, Priori SG, Spazzolini C, et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation. 2001;103:89–95
  25. Zhang L, Timothy KW, Vincent GM, et al. Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. Circulation. 2000;102:2849–2855
  26. Napolitano C, Bloise R, Priori SG. Gene-specific therapy for inherited arrhythmogenic diseases. Pharmacol Ther. 2006;110:1–13
  27. Zareba W, Moss AJ, Schwartz PJ, et al. Influence of genotype on the clinical course of the long-QT syndrome (International Long-QT Syndrome Registry Research Group). N Engl J Med. 1998;339:960–965
  28. Priori SG, Napolitano C, Schwartz PJ. Low penetrance in the Long-QT syndrome: clinical impact. Circulation. 1999;99:529–533
  29. Schott GD, McLeod AA, Jewitt DE. Cardiac arrhythmias that masquerade as epilepsy. Br Med J. 1977;1:1454–1457
  30. New Zealand health and disability sector overview (Ministry of Health). http://www.moh.govt.nzAccessed September 4, 2007
  31. Franklin WH, Hickey RW. Long-QT syndrome. N Engl J Med. 1995;333:355
  32. Zaidi A, Clough P, Cooper P, et al. Misdiagnosis of epilepsy: many seizure-like attacks have a cardiovascular cause. J Am Coll Cardiol. 2000;36:181–184
  33. McDade G, Brown SW. Non-epileptic seizures: management and predictive factors of outcome. Seizure. 1992;1:7–10
  34. Smith D, Defalla BA, Chadwick DW. The misdiagnosis of epilepsy and the management of refractory epilepsy in a specialist clinic. QJM. 1999;92:15–23
  35. Davis AM, Wilkinson JL. The long QT syndrome and seizures in childhood. J Paediatr Child Health. 1998;34:410–411
  36. American College of Emergency Physicians. Clinical policy: critical issues in the evaluation and management of adult patients presenting to the emergency department with seizures. Ann Emerg Med. 2004;43:605–625
  37. The diagnosis and management of the epilepsies in adults and children in primary and secondary care (NHS National Institute for Clinical Excellence). http://www.nice.org.uk/nicemedia/pdf/CG020fullguideline.pdfAccessed September 20, 2008
  38. Diagnosis and management of epilepsies in children and young people (Scottish Intercollegiate Guidelines Network). http://www.sign.ac.uk/pdf/sign81.pdfAccessed September 20, 2008
  39. Viskin S, Rosovski U, Sands AJ, et al. Inaccurate electrocardiographic interpretation of long QT: the majority of physicians cannot recognize a long QT when they see one. Heart Rhythm. 2005;2:569–574
  40. Puranik R, Chow CK, Duflou JA, et al. Sudden death in the young. Heart Rhythm. 2005;2:1277–1282
  41. Doolan A, Langlois N, Semsarian C. Causes of sudden cardiac death in young Australians. Med J Aust. 2004;180:110–112
  42. Tester DJ, Ackerman MJ. Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol. 2007;49:240–246
  43. Quaglini S, Rognoni C, Spazzolini C, et al. Cost-effectiveness of neonatal ECG screening for the long QT syndrome. Eur Heart J. 2006;27:1824–1832

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 Supervising editor: Keith A. Marill, MD

 Author contributions: All authors participated in the concept, design, analysis, writing, and revision of the article. JS takes responsibility for the paper as a whole.

 Funding and support: By Annals policy, all authors are required to disclose any and all commercial, financial, and other relationships in any way related to the subject of this article, that might create any potential conflict of interest. See the Manuscript Submission Agreement in this issue for examples of specific conflicts covered by this statement. The Cardiac Inherited Disease Group is supported by Cure Kids, the Green Lane Research and Education Fund and the Lion Foundation. Dr. MacCormick was supported by a research fellowship grant from the Southern Trust.

 Publication date: Available online March 12, 2009.

 Reprints not available from the authors.

PII: S0196-0644(09)00113-9

doi: 10.1016/j.annemergmed.2009.01.031

Annals of Emergency Medicine
Volume 54, Issue 1 , Pages 26-32 , July 2009