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

Heart Rhythm

Volumn 7, Issue 2, 2010, Pages 260-265

  Grilo, Liliana Sintra ^a,b   Pruvot, Etienne ^c   Grobéty, Michel ^d   Castella, Vincent ^e   Fellmann, Florence ^c   Abriel, Hugues ^a,c  

^a UNIVERSITY OF BERN   (Switzerland)

^b UNIVERSITY OF GENEVA   (Switzerland)

^c LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^d Clinique Cecil   (Switzerland)

^e UNIVERSITY CENTER OF LEGAL MEDICINE   (Switzerland)

Author keywords

Congenital long QT syndrome; hERG1; KCNH2; Takotsubo cardiomyopathy; Voltage gated potassium channel

Indexed keywords

ATENOLOL; CEFTRIAXONE; ISOPRENALINE; KETOCONAZOLE; PER ARNT SIM PROTEIN; POTASSIUM CHANNEL HERG; UNCLASSIFIED DRUG;

ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; CASE REPORT; ECG ABNORMALITY; ELECTROPHYSIOLOGY; FEMALE; GENE DUPLICATION; GENE EXPRESSION; GENETIC ANALYSIS; HUMAN; LONG QT SYNDROME; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN DOMAIN; SYNCOPE; TAKOTSUBO CARDIOMYOPATHY; TORSADE DES POINTES;

ADULT; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; HUMANS; LONG QT SYNDROME; MUTATION; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; SYNCOPE; TAKOTSUBO CARDIOMYOPATHY; TORSADES DE POINTES;

EID: 74449088538     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2009.09.026     Document Type: Article

References (15)

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