Heart Rhythm
Volume 1, Issue 3 , Pages 276-283 , September 2004

Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome

  • Wataru Shimizu, MD, PhD

      Affiliations

    • Division of Cardiology, Department of Internal Medicine, National Cardiovascular Center, Suita, Japan
    • Laboratory of Molecular Genetics, National Cardiovascular Center, Suita, Japan
    • Corresponding Author InformationAddress reprint requests and correspondence: Dr. Wataru Shimizu, Division of Cardiology, Department of Internal Medicine, National Cardiovascular Center, 5-7-1 Fujishiro-dai, Suita, Osaka, 565-8565 Japan
    • ,
  • Takashi Noda, MD, PhD

      Affiliations

    • Division of Cardiology, Department of Internal Medicine, National Cardiovascular Center, Suita, Japan
    • ,
  • Hiroshi Takaki, MD

      Affiliations

    • Department of Cardiovascular Dynamics, National Cardiovascular Center, Suita, Japan
    • ,
  • Noritoshi Nagaya, MD, PhD

      Affiliations

    • Division of Cardiology, Department of Internal Medicine, National Cardiovascular Center, Suita, Japan
    • ,
  • Kazuhiro Satomi, MD

      Affiliations

    • Division of Cardiology, Department of Internal Medicine, National Cardiovascular Center, Suita, Japan
    • ,
  • Takashi Kurita, MD, PhD

      Affiliations

    • Division of Cardiology, Department of Internal Medicine, National Cardiovascular Center, Suita, Japan
    • ,
  • Kazuhiro Suyama, MD, PhD

      Affiliations

    • Division of Cardiology, Department of Internal Medicine, National Cardiovascular Center, Suita, Japan
    • ,
  • Naohiko Aihara, MD

      Affiliations

    • Division of Cardiology, Department of Internal Medicine, National Cardiovascular Center, Suita, Japan
    • ,
  • Kenji Sunagawa, MD, PhD

      Affiliations

    • Department of Cardiovascular Dynamics, National Cardiovascular Center, Suita, Japan
    • ,
  • Shigeyuki Echigo, MD

      Affiliations

    • Department of Pediatrics, National Cardiovascular Center, Suita, Japan
    • ,
  • Yoshihiro Miyamoto, MD, PhD

      Affiliations

    • Laboratory of Molecular Genetics, National Cardiovascular Center, Suita, Japan
    • ,
  • Yasunao Yoshimasa, MD, PhD

      Affiliations

    • Laboratory of Molecular Genetics, National Cardiovascular Center, Suita, Japan
    • ,
  • Kazufumi Nakamura, MD, PhD

      Affiliations

    • Department of Cardiovascular Medicine, Okayama University Graduate School of Medicine and Dentistry, Okayama, Japan
    • ,
  • Tohru Ohe, MD, PhD

      Affiliations

    • Department of Cardiovascular Medicine, Okayama University Graduate School of Medicine and Dentistry, Okayama, Japan
    • ,
  • Jeffrey A. Towbin, MD

      Affiliations

    • Department of Pediatrics (Cardiology), Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    • ,
  • Silvia G. Priori, MD, PhD

      Affiliations

    • Molecular Cardiology, Salvatore Maugeri Foundation, IRCCS, Pavia, Italy
    • ,
  • Shiro Kamakura, MD, PhD

      Affiliations

    • Division of Cardiology, Department of Internal Medicine, National Cardiovascular Center, Suita, Japan

Received 30 January 2004 ,Accepted 14 April 2004.

References 

  1. Schwartz PJ , Periti M , Malliani A . The long QT syndrome . Am Heart J . 1975;89:378–390
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  5. Wilde AAM, Jongbloed RJE, Doevendans PA, Duren DR, Hauer RNW, van Langen IM, et al. Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQT2) patients from KVLQT1—related patients (LQT1) . J Am Coll Cardiol . 1999;33:327–332
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  14. Shimizu W, Tanabe Y, Aiba T, Inagaki M, Kurita T, Suyama K, et al. Differential effects of beta-blockade on dispersion of repolarization in absence and presence of sympathetic stimulation between LQT1 and LQT2 forms of congenital long QT syndrome . J Am Coll Cardiol . 2002;39:1984–1991
  15. Keating M , Atkinson D , Dunn C , Timothy K , Vincent GM , Leppert M . Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene . Science . 1991;252:704–706
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  17. Moss AJ, Schwartz PJ, Crampton RS, Tzivoni D, Locati EH, MacCluer JW, et al. The long QT syndrome (prospective longitudinal study of 328 families) . Circulation . 1991;84:1136–1144
  18. Vincent GM , Timothy KW , Leppert M , Keating MT . The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome . N Engl J Med . 1992;327:846–852
  19. Priori SG , Napolitano C , Schwartz PJ . Low penetrance in the long-QT syndrome (clinical impact) . Circulation . 1999;99:529–533
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  21. Shimizu W , Antzelevitch C . Cellular basis for the electrocardiographic features of the LQT1 form of the long QT syndrome (effects of beta-adrenergic agonists, antagonists and sodium channel blockers on transmural dispersion of repolarization and torsade de pointes) . Circulation . 1998;98:2314–2322
  22. Antzelevitch C , Yan GX , Shimizu W , Burashnikov A . Electrical heterogeneity, the ECG, and cardiac arrhythmias . In:  Zipes DP ,  Jalife J editor. Cardiac electrophysiology (from cell to bedside) . 3rd ed.. Philadelphia: WB Saunders; 1999;p. 222–238
  23. Shimizu W , Antzelevitch C . Differential response to beta-adrenergic agonists and antagonists in LQT1, LQT2 and LQT3 models of the long QT syndrome . J Am Coll Cardiol . 2000;35:778–786
  24. Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, et al. Spectrum of mutations in long-QT syndrome genes (KVLQT1, HERG, SCN5A, KCNE1, and KCNE2) . Circulation . 2000;102:1178–1185
  25. Zhang L, Timothy KW, Vincent GM, Lehmann MH, Fox J, Giuli LC, 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. Lupoglazoff JM, Denjoy I, Berthet M, Neyroud N, Demay L, Richard P, et al. Notched T waves on holter recordings enhance detection of patients with LQT2 (HERG) mutations . Circulation . 2001;103:1095–1101
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  28. Takenaka K, Ai T, Shimizu W, Kobori A, Ninomiya T, Otani H, et al. Exercise stress test amplifies genotype-phenotype correlation in the LQT1 and LQT2 forms of the long QT syndrome . Circulation . 2003;107:838–844

 Dr. Shimizu was supported in part by the Japanese Cardiovascular Research Foundation, Vehicle Racing Commemorative Foundation, and Health Sciences Research Grants from the Ministry of Health, Labour and Welfare, and Research Grant for Cardiovascular Diseases (15C-6) from the Ministry of Health, Labour and Welfare, Japan. Dr. Priori was supported by an educational grant from the Leducq Foundation. Dr. Towbin was supported by grants from the National Institutes of Health (NIH), National Heart, Lung & Blood Institute (NHLBI) (R01 HL33843 and R01 HL51618).

PII: S1547-5271(04)00274-7

doi: 10.1016/j.hrthm.2004.04.021

Heart Rhythm
Volume 1, Issue 3 , Pages 276-283 , September 2004

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