Heart Rhythm
Volume 7, Issue 2 , Pages 260-265 , February 2010

Takotsubo cardiomyopathy and congenital long QT syndrome in a patient with a novel duplication in the Per-Arnt-Sim (PAS) domain of hERG1

  • Liliana Sintra Grilo, MSc Pharm

      Affiliations

    • Department of Clinical Research, University of Bern, Bern, Switzerland
    • School of Pharmaceutical Sciences, University of Geneva, University of Lausanne, Geneva, Switzerland
    • ,
  • Etienne Pruvot, MD

      Affiliations

    • Service of Cardiology, CHUV, Lausanne, Switzerland
    • ,
  • Michel Grobéty, MD

      Affiliations

    • Clinique Cécil, Lausanne, Switzerland
    • ,
  • Vincent Castella, PhD

      Affiliations

    • Forensic Genetics Unit, University Center of Legal Medicine, Geneva and Lausanne, Switzerland
    • ,
  • Florence Fellmann, MD, PhD

      Affiliations

    • Service of Medical Genetics, CHUV, Lausanne, Switzerland
    • ,
  • Hugues Abriel, MD, PhD

      Affiliations

    • Department of Clinical Research, University of Bern, Bern, Switzerland
    • Service of Cardiology, CHUV, Lausanne, Switzerland
    • Corresponding Author InformationAddress reprint requests and correspondence: Dr. Hugues Abriel, Department of Clinical Research, University of Bern, Murtenstrasse, 35, 3010 Bern, Switzerland

Received 7 July 2009 ,Accepted 18 September 2009.

References 

  1. Rossenbacker T, Priori SG. New insights into the long-QT syndrome. Rev Esp Cardiol. 2007;60:675–682
  2. Akashi YJ, Goldstein DS, Barbaro G, Ueyama T. Takotsubo cardiomyopathy: a new form of acute, reversible heart failure. Circulation. 2008;118:2754–2762
  3. Pilgrim TM, Wyss TR. Takotsubo cardiomyopathy or transient left ventricular apical ballooning syndrome: a systematic review. Int J Cardiol. 2008;124:283–292
  4. Nanda AS, Feldman A, Liang CS. Acute reversal of pheochromocytoma-induced catecholamine cardiomyopathy. Clin Cardiol. 1995;18:421–423
  5. Mahida S, Dalageorgou C, Behr ER. Long-QT syndrome and torsades de pointes in a patient with Takotsubo cardiomyopathy: an unusual case. Europace. 2009;11:376–378
  6. Sasaki O, Nishioka T, Akima T, et al. Association of Takotsubo cardiomyopathy and long QT syndrome. Circ J. 2006;70:1220–1222
  7. Wedekind H, Muller JG, Ribbing M, et al. A fatal combination in an old lady: Tako-Tsubo cardiomyopathy, long QT syndrome, and cardiac hypertrophy. Europace. 2009;11:820–822
  8. Morais Cabral JH, Lee A, Cohen SL, et al. Crystal structure and functional analysis of the HERG potassium channel N terminus: a eukaryotic PAS domain. Cell. 1998;95:649–655
  9. Chen J, Zou A, Splawski I, Keating MT, Sanguinetti MC. Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation. J Biol Chem. 1999;274:10113–10118
  10. Paulussen A, Raes A, Matthijs G, et al. A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency. J Biol Chem. 2002;277:48610–48616
  11. Phartiyal P, Jones EMC, Robertson GA. Heteromeric assembly of hERG 1A/1B channels occurs cotranslationally via amino-terminal interactions. J Biol Chem. 2007;282:9874–9882
  12. Anderson CL, Delisle BP, Anson BD, et al. Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006;113:365–373
  13. Wittstein IS, Thiemann DR, Lima JA, et al. Neurohumoral features of myocardial stunning due to sudden emotional stress. N Engl J Med. 2005;352:539–548
  14. Roden DM. Long QT syndrome: reduced repolarization reserve and the genetic link. J Intern Med. 2006;259:59–69
  15. Stramba-Badiale M, Locati EH, Martinelli A, Courville J, Schwartz PJ. Gender and the relationship between ventricular repolarization and cardiac cycle length during 24-h Holter recordings. Eur Heart J. 1997;18:1000–1006

 Supported by grants from the CardioMet Centre of the Faculty of Biology and Medicine (CardioGene Grant 2007-2009), University of Lausanne, and the Swiss National Science Foundation (Grant 310000-120707 to Dr. Abriel).

PII: S1547-5271(09)01045-5

doi: 10.1016/j.hrthm.2009.09.026

Heart Rhythm
Volume 7, Issue 2 , Pages 260-265 , February 2010

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