Update of diagnosis and management of inherited cardiac arrhythmias

Circulation Journal

Volumn 77, Issue 12, 2013, Pages 2867-2872

  Shimizu, Wataru ^a  

^a NIPPON MEDICAL SCHOOL   (Japan)

Author keywords

Brugada syndrome; Genetic study; Long QT syndrome; Sudden death; Ventricular fibrillation

Indexed keywords

ADRENALIN; ADRENERGIC RECEPTOR STIMULATING AGENT; GLYCEROL 3 PHOSPHATE DEHYDROGENASE; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNE2; POTASSIUM CHANNEL KCNQ1; SODIUM CHANNEL NAV1.5; VOLTAGE GATED SODIUM CHANNEL BETA 1 SUBUNIT; VOLTAGE GATED SODIUM CHANNEL BETA 4 SUBUNIT;

BRUGADA SYNDROME; EXERCISE; GENE LOCUS; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; JERVELL AND LANGE-NIELSEN SYNDROME; LONG QT SYNDROME; LONG QT SYNDROME 1; LONG QT SYNDROME 2; LONG QT SYNDROME 3; PREVALENCE; REVIEW; ROMANO-WARD SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM;

BRUGADA SYNDROME; FEMALE; GENOTYPE; HUMANS; LONG QT SYNDROME; MALE; MUTATION; POLYMORPHISM, GENETIC;

EID: 84888239192     PISSN: 13469843     EISSN: 13474820     Source Type: Journal    
DOI: 10.1253/circj.CJ-13-1217     Document Type: Review

References (46)

1. Shimizu W. Clinical impact of genetic studies in lethal inherited cardiac arrhythmias. Circ J 2008; 72: 1926-1936.
2. Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, et al. Genetic basis and molecular mechanisms for idiopathic ventricular fbrillation. Nature 1998; 392: 293-296.
3. Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, et al. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm 2010; 7: 33-46.
4. Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm 2011; 8: 1308-1339.
5. Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, et al. HRS/ EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes. J Arrhythmia 2013 September 6, doi:10.1016/j.joa.2013.07.002 [E-pub ahead of print].
6. Schwartz PJ, Periti M, Malliani A. The long QT syndrome. Am Heart J 1975; 89: 378-390.
7. Schwartz PJ, Moss AJ, Vincent GM, Crampton RS. Diagnostic criteria for the long QT syndrome: An update. Circulation 1993; 88: 782-784.
8. Moss AJ, Schwartz PJ, Crampton RS, Locati E, Carleen E. The long QT syndrome: A prospective international study. Circulation 1985; 71: 17-21.
9. Priori SG, Schwartz PJ, Napolitano C, Bloise R, Ronchetti E, Grillo M, et al. Risk stratifcation in the long-QT syndrome. N Engl J Med 2003; 348: 1866-1874.
10. Shimizu W, Noda T, Takaki H, Nagaya N, Satomi K, Kurita T, et al. Diagnostic value of epinephrine test for genotyping LQT1, LQT2 and LQT3 forms of congenital long QT syndrome. Heart Rhythm 2004; 1: 276-283.
11. Schechter E, Freeman CC, Lazzara R. Afterdepolarizations as a mechanism for the long QT syndrome: Electrophysiologic studies of a case. J Am Coll Cardiol 1984; 3: 1556-1561.
12. Noda T, Takaki H, Kurita T, Suyama K, Nagaya N, TaguchiA, et al. Gene-specifc response of dynamic ventricular repolarization to sympathetic stimulation in LQT1, LQT2 and LQT3 forms of congenital long QT syndrome, Eur Heart J 2002; 23: 975-983.
13. Shimizu W, Horie M. Phenotypical manifestations of mutations in genes encoding subunits of cardiac potassium channels. Circ Res 2011; 109: 97-109.
14. Shimizu W, Ohe T, Kurita T, Takaki H, Aihara N, Kamakura S, et al. Early afterdepolarizations induced by isoproterenol in patients with congenital long QT syndrome. Circulation 1991; 84: 1915-1923.
15. Shimizu W, Antzelevitch C. Sodium channel block with mexiletine is effective in reducing dispersion of repolarization and preventing torsade de pointes in LQT2 and LQT3 models of the long-QT syndrome. Circulation 1997; 96: 2038-2047.
16. Itoh H, Shimizu W, Hayashi K, Yamagata K, Sakaguchi T, Ohno S, et al. Long QT syndrome with compound mutations is associated with a more severe phenotype: A Japanese multicenter study. Heart Rhythm 2010; 10: 1411-1418.
17. Makita N, Behr E, Shimizu W, Horie M, Sunami A, Crotti L, et al. The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. J Clin Invest 2008; 118: 2219-2229.
18. Schwartz PJ, Priori SG, Spazzolini C, Moss AJ, Vincent GM, Napolitano C, et al. Genotype-phenotype correlation in the long-QT syndrome: Gene-specifc triggers for life-threatening arrhythmias. Circulation 2001; 103: 89-95.
19. Takigawa M, Kawamura M, Noda T, Yamada Y, Miyamoto K, Okamura H, et al. Seasonal and circadian distributions of cardiac events in genotyped patients with congenital long QT syndrome. Circ J 2012; 76: 2112-2118.
20. Moss AJ, Shimizu W, Wilde AAM, Towbin JA, Zareba Z, Robinson JL, et al. Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation 2007; 115: 2481-2489.
21. Priori SG, Napolitano C, Schwartz PJ, Grillo M, Bloise R, Ronchetti E, et al. Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. JAMA 2004; 292: 1341-1344.
22. Shimizu W, Moss AJ, Wilde AAM, Towbin JA, Ackerman MJ, January C, et al. Genotype-phenotype aspects of type-2 long-QT syndrome. J Am Coll Cardiol 2009; 54: 2052-2062.
23. Mathias A, Moss AJ, Lopes CM, Barsheshet A, McNitt S, Zareba W, et al. Prognostic implications of mutation specifc QTc standard deviation in congenital long QT syndrome. Heart Rhythm 2013; 10: 720-725.
24. Shimizu W, Horie M, Ohno S, Takenaka K, Yamaguchi M, Shimizu M, et al. Mutation site-specifc differences in arrhythmic risk and sensitivity to sympathetic stimulation in LQT1 form of congenital long QT syndrome: Multi-center study in Japan. J Am Coll Cardiol 2004; 44: 117-125.
25. Moss AJ, Zareba W, Kaufman ES, Gartman E, Peterson DR, Benhorin J, et al. Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation 2002; 105: 794-799.
26. Schwartz P, Crotti L, Insolia R. Arrhythmogenic disorders of genetic origin: Long QT syndrome: From genetics to management. Circ Ar-rhythm Electrophysiol 2012; 5: 868-873.
27. Nishio Y, Makiyama T, Itoh H, Sakaguchi T, Ohno S, Gong YZ, et al. D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome. J Am Coll Cardiol 2009; 54: 812-819.
28. Duchatelet S, Crotti L, Peat RA, Denjoy I, Itoh H, Berthet M, et al. Identifcation of a KCNQ1 polymorphism acting as a protective mod-ifer against arrhythmic risk in long-QT syndrome. Circ Cardiovasc Genet 2013; 6: 354-361.
29. Brugada P, Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: A distinct clinical and elec-trocardiographic syndrome: A multicenter report. J Am Coll Cardiol 1992; 20: 1391-1396.
30. Wilde AA, Antzelevitch C, Borggrefe M, Brugada J, Brugada R, Brugada P, et al. Proposed diagnostic criteria for the Brugada syndrome: Consensus report. Circulation 2002; 106: 2514-2519.
31. Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, et al. Brugada syndrome: Report of the Second Consensus Conference. Endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation 2005; 111: 659-670.
32. Shimizu W. Clinical features of Brugada syndrome. J Arrhythmia 2013; 29: 65-70.
33. Atarashi H, Ogawa S, Harumi K, Sugimoto T, Inoue H, Murayama M, et al, Idiopathic Ventricular Fibrillation Investigators. Three-year follow-up of patients with right bundle branch block and ST segment elevation in the right precordial leads: Japanese Registry of Brugada Syndrome. J Am Coll Cardiol 2001; 37: 1916-1920.
34. Sarkozy A, Sorgente A, Boussy T, Casado R, Paparella G, Capulzini L, et al. The value of a family history of sudden death in patients with diagnostic type I Brugada ECG pattern. Eur Heart J 2011; 32: 2153-2160.
35. Miyamoto K, Yokokawa M, Tanaka K, Nagai T, Okamura H, Noda T, et al. Diagnostic and prognostic value of type 1 Brugada electrocardiogram at higher (third or second) V1 to V2 recording in men with Brugada syndrome. Am J Cardiol 2007; 99: 53-57.
36. Shimizu W, Aiba T, Kamakura S. Mechanisms of disease: Current understanding and future challenges in Brugada syndrome. Nat Clin Pract Cardiovasc Med 2005; 2: 408-414.
37. Shimizu W, Aiba T, Kamakura S. Mechanism and new fndings in the Brugada syndrome. Circ J 2007; 71(Suppl A): A32-A39.
38. Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, et al. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation 2007; 115: 442-449.
39. Wilde AA, Brugada R. Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel. Circ Res 2011; 108: 884-887.
40. Smits JP, Eckardt L, Probst V, Bezzina CR, Schott JJ, Remme CA, et al. Genotype-phenotype relationship in Brugada syndrome: Elec-trocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. J Am Coll Cardiol 2002; 40: 350-356.
41. Yokokawa M, Noda T, Okamura H, Satomi K, Suyama K, Kurita T, et al. Comparison of long-term follow-up of electrocardiographic features in Brugada syndrome between the SCN5A-positive probands and the SCN5A-negative probands. Am J Cardiol 2007; 100: 649-655.
42. Bezzina CR, Shimizu W, Yang P, Koopmann TT, Tanck MWT, Miyamoto Y, et al. A common sodium channel promoter haplotype in Asian subjects underlies variability in cardiac conduction. Circulation 2006; 113: 338-344.
43. Priori, SG, Napolitano C, Gasparini M, Pappone C, Della Bella P, Brignole M, et al. Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families. Circulation 2000; 102: 2509-2515.
44. Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, et al. Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. Nat Genet 2013; 45: 1044-1049.
45. Leimeister C, Externbrink A, Klamt B, Gessler M. Hey genes: A novel subfamily of hairy-and enhancer of split related genes specifcally expressed during mouse embryogenesis. Mech Dev 1999; 85: 173-177.
46. Berne P, Brugada J. Brugada syndrome 2012. Circ J 2012; 76: 1563-1571.