Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

Nature

Volumn 392, Issue 6673, 1998, Pages 293-296

  Chen, Qiuyun ^a   Kirsch, Glenn E ^b   Zhang, Danmei ^a   Brugada, Ramon ^a   Brugada, Josep ^c   Brugada, Pedro ^d   Potenza, Domenico ^e   Moya, Angel ^f   Borggrefe, Martin ^g   Breithardt, Günter ^g   Ortiz Lopez, Rocio ^a   Wang, Zhiqing ^a   Antzelevitch, Charles ^h   O'Brlen, Richard E ^a   Schulze Bahr, Eric ^g   Keating, Mark T ⁱ   Towbin, Jeffrey A ^a   Wang, Qing ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b CASE WESTERN RESERVE UNIVERSITY   (United States)

^c UNIVERSITY OF BARCELONA   (Spain)

^d OLV HOSPITAL   (Belgium)

^e CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^f HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^g UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^h MASONIC MEDICAL RESEARCH LABORATORY   (United States)

ⁱ UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; ION CHANNEL; SODIUM CHANNEL;

ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE MUTATION; HEART ELECTROPHYSIOLOGY; HEART VENTRICLE ARRHYTHMIA; HEART VENTRICLE FIBRILLATION; HUMAN; IDIOPATHIC DISEASE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SITE DIRECTED MUTAGENESIS;

ACTION POTENTIALS; ANIMALS; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; ELECTROPHYSIOLOGY; FEMALE; FRAMESHIFT MUTATION; HUMANS; ION CHANNEL GATING; KINETICS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, SECONDARY; RECOMBINANT PROTEINS; SODIUM CHANNELS; VENTRICULAR FIBRILLATION; XENOPUS;

EID: 0032546384     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/32675     Document Type: Article

References (30)

1. Kannel W. B., Cupples, A. & D'Agostino, R. B. Sudden death risk in overt coronary heart disease: the Framingham study. Am. Heart J. 113, 799-804 (1987).
2. Willich, S. et al. Circadian variation in the incidence of sudden cardiac death in the Framingham heart study population. Am. J. Cardiol. 60, 801-806 (1987).
3. Trappe, H. J. et al. Prognosis of patients with ventricular tachycardia and ventricular fibrillation: role of the underlying etiology. J. Am. Coll. Cardiol. 12, 166-174 (1988).
4. Viskin, S. & Belhassen, B. Idiopathic ventricular fibrillation. Am. Heart J. 120, 661-671 (1990).
5. Wichter, T., Breithardt, G. & Borggrefe, M. in Cardiac Arrhythmia: Mechanism, Diagnosis, and Management (eds Podrid, P. J. & Kowey, P. R.) 1219-1238 (Williams & Wilkins, Maryland, 1995).
6. Martini, B. et al. Ventricular fibrillation without apparent heart disease: description of six cases. Am. Heart. J. 118, 1203-1209 (1989).
7. Brugada, J., Brupada, R. & Brugada, P. Right bundle branch block, STsegment elevation In leads VIV3: a marker for sudden death in patients without demonstrable structural heart disease. Circulation 96, 1151 (1997).
8. Brugada, P. & Brugada, J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electroctirdiographic syndrome. A multiccnter report. J. Am. Coll. Cardiol. 20, 1391-1396 (1992).
9. Brugada, P. & Brugada, J. Further characterization of the syndrome of right bundle branch block, ST segment elevation, and sudden cardiac death. J. Cardivasc, Electrophysiol. 8, 325-331 (1997).
10. Brugdda, J., Brugada, P. & Brugada, R. Ajmaline unmasks right bundle branch block-like and ST segment elevation in VI-V3 in patients with idiopathic ventricular fibrillation. PACE 19, 599
11. Miyanuma, H., Sakurai, M. & Odaka, H. TWo cases of idiopathic ventricular fibrillation with interesting electrocardiographic findings, Kokyu to Junkan 41, 287-291 (1993).
12. Aizawa, Y. et al. Idiopathic veentricular fibrillation and bradycardic-dependent intraventricular block. Am. Heart J. 126, 1473-1474 (1993).
13. Sumiyoshi. M. et al. A case of idiopathic ventricular fibrillation with incomplete right bundle branch block and persistent ST segment elevation. Jpn Heart J. 34, 661-666 (1993).
14. Bjerregaard, P., Gussak, I., Kotar, S. L., Gessler, J. E. & Janosik, P. Recurrent syncope in patient with prominent J. wave. Am. Heart J. 127, 1426-1430 (1994).
15. Miyazaki, T. et al. Autonomic and antiarrhythmic drug modulation of ST segment elevation in patients with Brugada syndrome. J. Am. Coll. Cardiol. 27, 1061-1070 (1996).
16. Tung, R. T., Shen, W., Hammil, S. C. & Gersh, E. J. Idiopathethic ventricular fibrillation in out-of-hospital cardic arrest survivors, PACE 17, 1405-1411 (1994).
17. Cobb, L. A. in Hurst's The Heart (eds Schiant, R. C. & Alexander, R. W.) 8th edn. 947-957 (McGraw Hill, New York, 1994).
18. Wang, Q., Li, Z., Shen, J. & Keating, M. T. Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics, 34, 9-16 (1996).
19. Rogers, J. C., Qu, Y., Tanada, T. N., Scheuer, T. & Carterall W. A. Molecular determinants of high affinity binding of α-scorpion toxin and sea anemone toxin in the S3-S4 extracellular loop in domain IV of the Na channel a subunit. J. Biol. Chem. 271, 15950-15962 (1996).
20. Hoffman, E. P., Lehmann-Horn, F. & Rudel, R. Overexcited or inactive: ion channels in muscle disease. Cell 80, 681-686 (1995).
21. Yang, N. & Horn, R. Evidence for voltage-dependent S4 movement in sodium channels. Neuron 15, 213-218 (1995).
22. Shapiro, M. B. & Senapathy, P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res. 15, 7155-7174 (1987).
23. Wang, Q. et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QTsyndrome. Cell 80, 805-811 (1995).
24. Wang, Q. et al. Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum. Mol. Genetics 4, 1603-1607 (1995).
25. Bennett, P. B., Yuawa, K., Makita, N. & George, A. L. Jr Molecular mechanism for an inherited cardiac arrhythmia. Nature 376, 683-685 (1995).
26. + channel-linked long-QT syndrome. Circulation Res. 78, 916-992 (1996).
27. Stuhmer, W. et al. Structural parts involved in activation and inactivation of the sodium channel. Nature 339, 597-603 (1989).
28. Krishnan, S. C. & Antzelevitch, C. Sodium channel block produces opposite dectrophysiological effects in canine ventricular epicardium and endocardium. Circulation Res. 69, 277-291 (1991).
29. Krishnan, S. C. & Antzelevitch, C. Flecainide-induced arrhythmia in canine ventricular epicardium. Phase 2 reentry? Circulation 87, 562-572 (1992).
30. Van, G. X. & Antzelevitch, C. Cellular basis for the electrocardiographic J wave. Circulation 93, 372379 (1996).