"Benign" early repolarization versus malignant early abnormalities: Clinical-electrocardiographic distinction and genetic basis

Cardiology Journal

Volumn 19, Issue 4, 2012, Pages 337-346

  Pérez Riera, Andrés Ricardo ^a   de Abreu, Luiz Carlos ^b   Yanowitz, Frank ^c   Barros, Raimundo Barbosa ^d   Femenía, Francisco ^e   McIntyre, William F ^f   Baranchuk, Adrian ^f  

^a FACULDADE DE MEDICINA DO ABC   (Brazil)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d Coronary Center Hospital de Messejana Dr Carlos Alberto Studart Gomes Fortaleza ^*  (Brazil)

^e HOSPITAL ESPAÑOL DE MENDOZA   (Argentina)

^f QUEEN S UNIVERSITY   (Canada)

Author keywords

Early repolarization pattern; Early repolarization syndrome; Idiopathic ventricular fibrillation

Indexed keywords

DIPEPTIDYL PEPTIDASE; QUINIDINE; SODIUM CHANNEL NAV1.5;

ABLATION THERAPY; ACUTE CORONARY SYNDROME; CACNA1C GENE; CACNA2D1 GENE; CACNB2 GENE; DEFIBRILLATOR; DIFFERENTIAL DIAGNOSIS; DIPEPTIDYL PEPTIDASE VI GENE; DISEASE ASSOCIATION; EARLY REPOLARIZATION PATTERN; ECG ABNORMALITY; ELECTROCARDIOGRAM; GENE; GENE MUTATION; HEART LEFT BUNDLE BRANCH BLOCK; HEART VENTRICLE EXTRASYSTOLE; HEART VENTRICLE FIBRILLATION; HEART VENTRICLE TACHYCARDIA; HUMAN; IDIOPATHIC VENTRICULAR FIBRILLATION; J WAVE; KCNJ8 GENE; LONG QT SYNDROME; PATHOGENESIS; R WAVE; REVIEW; SCN3B GENE; SHORT QT SYNDROME; SODIUM ION CHANNEL ALPHA SUBUNIT GENE; ST SEGMENT ELEVATION; T WAVE;

ACTION POTENTIALS; ADULT; ARRHYTHMIAS, CARDIAC; DIAGNOSIS, DIFFERENTIAL; ELECTROCARDIOGRAPHY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEART CONDUCTION SYSTEM; HUMANS; MALE; PREDICTIVE VALUE OF TESTS; PROGNOSIS; RISK ASSESSMENT; RISK FACTORS; TIME FACTORS; VENTRICULAR FIBRILLATION; YOUNG ADULT;

EID: 84864058368     PISSN: 18975593     EISSN: None     Source Type: Journal    
DOI: 10.5603/CJ.2012.0063     Document Type: Review

References (57)

1. Parisi AF, Beckmann CH, Lancaster MC. The spectrum of ST segment elevation in the electrocardiograms of healthy adult men. J Electrocardiol, 1971; 4: 137-144.
2. Di Paolo FM, Schmied C, Zerguini YA. The athlete's heart in adolescent Africans: An electrocardiographic and echocardiographic study. J Am Coll Cardiol, 2012; 59: 1029-1036.
3. Rosso R, Kogan E, Belhassen B et al. J-point elevation in surviors of primary ventricular fibrillation and matched control subjects: incidence and clinical significance. J Am Coll Cardiol, 2008; 52: 1231-1238.
4. Perez MV, Uberoi A, Jain NA, Ashley E, Turakhia MP, Froelicher V. The prognostic value of early repolarization with ST-segment elevation in African Americans. Heart Rhythm, 2011 [in press].
5. Edeiken J. Elevation of the RS-T segment, apparent or real, in the right precordial leads as a probable normal variant. Am Heart J, 1954; 48: 331-339.
6. Wasserburger RH, Alt WJ. The normal RS-T segment elevation variant. Am J Cardiol, 1961; 8: 184-192.
7. Brady WJ, Perron AD, Syverud SA et al. Reciprocal ST segment depression: impact on the electrocardiographic diagnosis of ST segment elevation acute myocardial infarction. Am J Emerg Med, 2002; 20: 35-38.
8. Benito B, Guasch E, Rivard L, Nattel S. Clinical and mechanistic issues in early repolarization of normal variants and lethal arrhythmia syndromes. J Am Coll Cardiol, 2010; 56: 1177-1186.
9. nd, Warren RB, Edwards SB. Body surface low-level potentials during ventricular repolarization with analysis of the ST segment: variability in normal subjects. Circulation, 1979; 59: 822-836.
10. Mirvis DM. Evaluation of normal variations in S-T segment patterns by body surface isopotential mapping: S-T segment elevation in absence of heart disease. Am J Cardiol, 1982; 50: 122-128.
11. Fenichel NN. A long term study of concave RS-T elevation: A normal variant of the electrocardiogram. Angiology, 1962; 13: 360-366.
12. Nakamoto K, Yonezawa A, Iwamoto H. Psychosomatic significance of a concave rs-t elevation in chemically normal hearts. Jpn Cir J, 1965; 29: 223-241.
13. Govindan M, Batchvarov VN, Raju H et al. Utility of high and standard right precordial leads during ajmaline testing for the diagnosis of Brugada syndrome. Heart, 2010; 96: 1904-1908.
14. 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.
15. Abe A, Ikeda T, Tsukada T, Ishiguro H, Miwa Y, Miyakoshi M. Circadian variation of late potentials in idiopathic ventricular fibrillation associated with J waves: Insights into alternative pathophysiology and risk stratification. Heart Rhythm, 2010; 7: 675-682.
16. Gussak I, Bjerregaard P, Kostis J. Electrocardiographic "lambda" wave and primary idiopathic cardiac asystole: a new clinical syndrome? J Electrocardiol, 2004; 37: 105-107.
17. Riera AR, Ferreira C, Schapachnik E, Sanches PC, Moffa PJ. Brugada syndrome with atypical ECG: Downsloping ST-segment elevation in inferior leads. J Electrocardiol, 2004; 37: 101-104.
18. Rosso R, Glikson E, Belhassen B et al. Distinguishing "benign" from "malignant early repolarization": the value of the ST-segment morphology. Heart Rhythm, 2012; 9: 225-229.
19. Yan GX, Antzelevitch C. Cellular basis for the electrocardiographic J wave. Circulation, 1996; 93: 372-379.
20. Hlaing T, DiMino T, Kowey PR, Yan GX. ECG repolarization waves: their genesis and clinical implications. Ann Noninvasive Electrocardiol, 2005; 10: 211-223.
21. Bernard A, Genée O, Grimard C, Sacher F, Fauchier L, Babuty D. Electrical storm reversible by isoproterenol infusion in a striking case of early repolarization. J Interv Card Electrophysiol, 2009; 25: 123-127.
22. Sacher F, Victor J, Hocini M et al. Characterization of premature ventricular contraction initiating ventricular fibrillation. Arch Mal Coeur Vaiss, 2005; 98: 867-873.
23. Mittadodla PS, Salen PN, Traub DM. Isoproterenol as an adjunct for treatment of idiopathic ventricular fibrillation storm in a pregnant woman. Am J Emerg Med, 2012; 30: 251.e3-5.
24. Antzelevitch C, Yan GX. J-wave syndromes. from cell to bedside. J Electrocardiol, 2011; 44: 656-661.
25. Shu J, Zhu T, Yang L, Cui C, Yan GX. ST-segment elevation in the early repolarization syndrome, idiopathic ventricular fibrillation, and the Brugada syndrome: cellular and clinical linkage. J Electrocardiol, 2005; 38: 26-32.
26. Take Y, Morita H, Wu J et al. Spontaneous electrocardiogram alterations predict ventricular fibrillation in Brugada syndrome. Heart Rhythm, 2011; 8: 1014-1021.
27. McIntyre WF, Pérez-Riera AR, Femenía F, Baranchuk A. Coexi-sting early repolarization pattern and Brugada syndrome: recognition of potentially overlapping entities. J Electrocardiol, 2012; 45: 199-202.
28. Hofman N, van Lochem LT, Wilde AA. Genetic basis of malignant channelopathies and ventricular fibrillation in the structurally normal heart. Future Cardiol, 2010; 6: 395-408.
29. Mizumaki K, Nishida K, Iwamoto J et al. Vagal activity modulates spontaneous augmentation of J-wave elevation in patients with idiopathic ventricular fibrillation. Heart Rhythm, 2012; 9: 249-255.
30. Derval N, Simpson CS, Birnie DH et al. Prevalence and characteristics of early repolarization in the CASPER registry: Cardiac arrest survivors with preserved ejection fraction registry. J Am Coll Cardiol, 2011; 58: 722-728.
31. Viskin S, Zeltser D, Ish-Shalom M et al. Is idiopathic ventricular fibrillation a short QT syndrome? Comparison of QT intervals of patients with idiopathic ventricular fibrillation and healthy controls. Heart Rhythm, 2004; 1: 587-591.
32. Deo R, Albert CM. Epidemiology and genetics of sudden cardiac death. Circulation, 2012;125: 620-637.
33. Haissaguerre M, Derval N, Sacher Fetal. Sudden cardiac arrest associated with early repolarization. N Engl J Med, 2008; 358: 2016-2023.
34. Myerburg RJ, Castellanos A. Early repolarization and sudden cardiac arrest: theme or variation on a theme? Nature Clin Pract, 2008; 5: 760-761.
35. Rudic B, Veltmann C, Kuntz E et al. Early repolarization pattern is associated with ventricular fibrillation in patients with acute myocardial infarction. Heart Rhythm, 2012 [Epub ahead of print].
36. Viskin S. Idiopathic ventricular fibrillation "Le Syndrome d'Haissaguerre" and the fear of J waves. J Am Coll Cardiol, 2009; 53: 620-622.
37. Gussak I, Brugada P, Brugada J et al. Idiopathic short QT interval: A new clinical syndrome? Cardiology, 2000; 94: 99-102.
38. Watanabe H, Makiyama T, Koyama T et al. High prevalence of early repolarization in short QT syndrome. Heart Rhythm, 2010; 7: 647-652.
39. Martinek M, Purerfellner H. A phenotypic combination of idiopathic VF and Brugada syndrome. Pacing Clin Electrophysiol, 2010; 33: e84-e87.
40. Letsas KP, Sacher F, Probst V et al. Prevalence of early repolarization pattern in inferolateral leads in patients with Brugada syndrome. Heart Rhythm, 2008; 5: 1685-1689.
41. Akai J, Makita N, Sakurada H et al. A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. FEBS Lett, 2000; 479: 29-34.
42. Potet F, Mabo P, Le Coq G et al. Novel Brugada SCN5A mutation leading to ST segment elevation in the inferior or the right precordial leads. J Cardiovasc Electrophysiol, 2003; 14: 2000-2003.
43. Mohler PJ, Splawski I, Napolitano C et al. A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc Nat Acad Sci, 2004; 101: 9137-9142.
44. Haïssaguerre M, Chatel S, Sacher F et al. Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel. J Cardiovasc Electrophysiol, 2009; 20: 93-98.
45. Alders M, Koopmann TT, Christiaans I et al. Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation. Am J Hum Genet, 2009; 84: 68-476.
46. Radicke S, Cotella D, Sblattero D, Ravens U, Santoro C, Wettwer E. The transmembrane beta-subunits KCNE1, KCNE2, and DPP6 modify pharmacological effects of the antiarrhythmic agent tedisamil on the transient outward current Ito. Naunyn Schmiede bergs Arch Pharmacol, 2009; 379: 617-626.
47. Radicke S, Cotella D, Graf EM, Ravens U, Wettwer E. Expression and function of dipeptidyl-aminopeptidase-like protein 6 as a putative beta-subunit of human cardiac transient outward current encoded by Kv4.3. J Physiol, 2005; 565: 751-756.
48. Valdivia CR, Medeiros-Domingo A, Ye B et al. Loss-of-function mutation of the SCN3B-encoded sodium channel beta3 subunit associated with a case of idiopathic ventricular fibrillation. Cardiovasc Res, 2010; 86: 392-400.
49. Hu D, Barajas-Martinez H, Burashnikov E et al. A mutation in the beta-3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. Circ Cardiovasc Genet, 2009; 2: 270-278.
50. Burashnikov E, Pfeiffer R, Barajas-Martinez H et al. Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Heart Rhythm, 2010; 7: 1872-1882.
51. Sinner MF, Reinhard W, Müller M et al. Association of early repolarization pattern on ECG with risk of cardiac and all-cause mortality: a population-based prospective cohort study (MONICA/ /KORA). PLoS Med, 2010; 7: e1000314.
52. Patel RB, Ng J, Reddy V et al. Early repolarization associated with ventricular arrhythmias in patients with chronic coronary artery disease. Circ Arrhythm Electrophysiol, 2010; 3: 489-495.
53. Belhassen B, Glick A, Viskin S. Excellent long-term reproducibility of the electrophysiologic efficacy of quinidine in patients with idiopathic ventricular fibrillation and Brugada syndrome. Pacing Clin Electrophysiol, 2009; 32: 294-301.
54. Golian M, Bhagirath KM, Sapp JL, Jassal DS, Khadem A. Idiopathic ventricular fibrillation controlled successfully with phenytoin. J Cardiovasc Electrophysiol, 2011; 22: 472-474.
55. Tebbenjohanns J, Rühmkorf K. Emergency catheter ablation in critical patients. J Emerg Trauma Shock, 2010; 3: 160-163.
56. Knecht S, Sacher F, Wright M et al. Long-term follow-up of idiopathic ventricular fibrillation ablation: A multicenter study. J Am Coll Cardiol, 2009; 54: 522-528.
57. Wright M, Sacher F, Haissaguerre M. Catheter ablation for patients with ventricular fibrillation. Curr Opin Cardiol, 2009; 24: 56-60.