Relationship between arrhythmogenic right ventricular cardiomyopathy and brugada syndrome

Circulation: Arrhythmia and Electrophysiology

Volumn 9, Issue 4, 2016, Pages

  Corrado, Domenico ^a   Zorzi, Alessandro ^a   Cerrone, Marina ^b   Rigato, Ilaria ^a   Mongillo, Marco ^a   Bauce, Barbara ^a   Delmar, Mario ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

arrhythmogenic right ventricular dysplasia; cardiomyopathies; death, sudden; electrophysiology; ion channels

Indexed keywords

ADAPTOR PROTEIN; ANKYRIN G; ANTIARRHYTHMIC AGENT; CALCIUM CHANNEL; DESMOPLAKIN; NERVE CELL ADHESION MOLECULE; POTASSIUM CHANNEL; SODIUM CHANNEL; SODIUM CHANNEL NAV1.5; UNCLASSIFIED DRUG;

ACTION POTENTIAL; ANGIOGRAPHY; ARTICLE; BRUGADA SYNDROME; CARDIOVASCULAR MAGNETIC RESONANCE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; ECG ABNORMALITY; ECHOCARDIOGRAPHY; GENOTYPE PHENOTYPE CORRELATION; HEART LEFT BUNDLE BRANCH BLOCK; HEART MUSCLE BIOPSY; HEART MUSCLE CONDUCTION DISTURBANCE; HEART MUSCLE FIBROSIS; HEART RIGHT BUNDLE BRANCH BLOCK; HEART RIGHT VENTRICLE DYSPLASIA; HEART VENTRICLE ARRHYTHMIA; HEART VENTRICLE CONDUCTION; HEART VENTRICLE FIBRILLATION; HISTOPATHOLOGY; HUMAN; MOLECULAR BIOLOGY; MOLECULAR GENETICS; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; REPOLARIZATION; SODIUM CHANNELOPATHY; SODIUM CURRENT; ST SEGMENT ELEVATION; SUDDEN CARDIAC DEATH; T WAVE INVERSION; ANIMAL; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; ELECTROCARDIOGRAPHY; HEART MUSCLE CONDUCTION SYSTEM; METABOLISM; PATHOPHYSIOLOGY; PROCEDURES;

ANIMALS; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; BRUGADA SYNDROME; DIAGNOSIS, DIFFERENTIAL; ELECTROCARDIOGRAPHY; HEART CONDUCTION SYSTEM; HUMANS; MOLECULAR BIOLOGY;

EID: 84962909145     PISSN: 19413149     EISSN: 19413084     Source Type: Journal    
DOI: 10.1161/CIRCEP.115.003631     Document Type: Article

References (52)

1. Thiene G, Nava A, Corrado D, Rossi L, Pennelli N, Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med 1988 318 129 133. doi: 10.1056/NEJM198801213180301.
2. Brugada P, Brugada J, Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol 1992 20 1391 1396
3. Corrado D, Basso C, Thiene G, McKenna WJ, Davies MJ, Fontaliran F, Nava A, Silvestri F, Blomstrom-Lundqvist C, Wlodarska EK, Fontaine G, Camerini F, Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. J Am Coll Cardiol 1997 30 1512 1520
4. Corrado D, Basso C, Pilichou K, Thiene G, Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart 2011 97 530 539. doi: 10.1136/hrt.2010.193276.
5. Corrado D, Wichter T, Link MS, Hauer RN, Marchlinski FE, Anastasakis A, Bauce B, Basso C, Brunckhorst C, Tsatsopoulou A, Tandri H, Paul M, Schmied C, Pelliccia A, Duru F, Protonotarios N, Estes NM III, McKenna WJ, Thiene G, Marcus FI, Calkins H, Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: An International Task Force Consensus Statement. Circulation 2015 132 441 453. doi: 10.1161/CIRCULATIONAHA.115.017944.
6. Wilde AA, Antzelevitch C, Borggrefe M, Brugada J, Brugada R, Brugada P, Corrado D, Hauer RN, Kass RS, Nademanee K, Priori SG, Towbin JA, Study Group on the Molecular Basis of Arrhythmias of the European Society of Cardiology Proposed diagnostic criteria for the Brugada syndrome: consensus report. Circulation 2002 106 2514 2519
7. Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, Gussak I, LeMarec H, Nademanee K, Perez Riera AR, Shimizu W, Schulze-Bahr E, Tan H, Wilde A, 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. doi: 10.1161/01.CIR.0000152479.54298.51.
8. Antzelevitch C, Yan GX, J-wave syndromes: Brugada and early repolarization syndromes. Heart Rhythm 2015 12 1852 1866. doi: 10.1016/j.hrthm.2015.04.014.
9. Corrado D, Buja G, Basso C, Nava A, Thiene G, What is the Brugada syndrome? Cardiol Rev 1999 7 191 195
10. Scheinman MM, Is the Brugada syndrome a distinct clinical entity? J Cardiovasc Electrophysiol 1997 8 332 336
11. Corrado D, Basso C, Leoni L, Tokajuk B, Turrini P, Bauce B, Migliore F, Pavei A, Tarantini G, Napodano M, Ramondo A, Buja G, Iliceto S, Thiene G, Three-dimensional electroanatomical voltage mapping and histologic evaluation of myocardial substrate in right ventricular outflow tract tachycardia. J Am Coll Cardiol 2008 51 731 739. doi: 10.1016/j.jacc.2007.11.027.
12. Delmar M, The intercalated disk as a single functional unit. Heart Rhythm 2004 1 12 13. doi: 10.1016/j.hrthm.2004.02.003.
13. Delmar M, Desmosome-ion channel interactions and their possible role in arrhythmogenic cardiomyopathy. Pediatr Cardiol 2012 33 975 979. doi: 10.1007/s00246-012-0257-0.
14. Cerrone M, Delmar M, Desmosomes and the sodium channel complex: implications for arrhythmogenic cardiomyopathy and Brugada syndrome. Trends Cardiovasc Med 2014 24 184 190. doi: 10.1016/j.tcm.2014.02.001.
15. Sato PY, Musa H, Coombs W, Guerrero-Serna G, Patiño GA, Taffet SM, Isom LL, Delmar M, Loss of plakophilin-2 expression leads to decreased sodium current and slower conduction velocity in cultured cardiac myocytes. Circ Res 2009 105 523 526. doi: 10.1161/CIRCRESAHA.109.201418.
16. Sato PY, Coombs W, Lin X, Nekrasova O, Green KJ, Isom LL, Taffet SM, Delmar M, Interactions between ankyrin-G, Plakophilin-2, and Connexin43 at the cardiac intercalated disc. Circ Res 2011 109 193 201. doi: 10.1161/CIRCRESAHA.111.247023.
17. Cerrone M, Noorman M, Lin X, Chkourko H, Liang FX, van der Nagel R, Hund T, Birchmeier W, Mohler P, van Veen TA, van Rijen HV, Delmar M, Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency. Cardiovasc Res 2012 95 460 468. doi: 10.1093/cvr/cvs218.
18. Gomes J, Finlay M, Ahmed AK, Ciaccio EJ, Asimaki A, Saffitz JE, Quarta G, Nobles M, Syrris P, Chaubey S, McKenna WJ, Tinker A, Lambiase PD, Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study. Eur Heart J 2012 33 1942 1953. doi: 10.1093/eurheartj/ehr472.
19. Noorman M, Hakim S, Kessler E, Groeneweg JA, Cox MG, Asimaki A, van Rijen HV, van Stuijvenberg L, Chkourko H, van der Heyden MA, Vos MA, de Jonge N, van der Smagt JJ, Dooijes D, Vink A, de Weger RA, Varro A, de Bakker JM, Saffitz JE, Hund TJ, Mohler PJ, Delmar M, Hauer RN, van Veen TA, Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy. Heart Rhythm 2013 10 412 419. doi: 10.1016/j.hrthm.2012.11.018.
20. Rizzo S, Lodder EM, Verkerk AO, Wolswinkel R, Beekman L, Pilichou K, Basso C, Remme CA, Thiene G, Bezzina CR, Intercalated disc abnormalities, reduced Na(+) current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes. Cardiovasc Res 2012 95 409 418. doi: 10.1093/cvr/cvs219.
21. Cerrone M, Lin X, Zhang M, Agullo-Pascual E, Pfenniger A, Chkourko Gusky H, Novelli V, Kim C, Tirasawadichai T, Judge DP, Rothenberg E, Chen HS, Napolitano C, Priori SG, Delmar M, Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype. Circulation 2014 129 1092 1103. doi: 10.1161/CIRCULATIONAHA.113.003077.
22. Watanabe H, Minamino T, Genetics of Brugada syndrome [published online ahead of print July 30, 2015]. J Hum Genet. doi: 10.1038/jhg.2015.97. http://www.nature.com/jhg/journal/vaop/ncurrent/full/jhg201597a.html. Accessed October 26, 2015.
23. Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MG, Daubert JP, Fontaine G, Gear K, Hauer R, Nava A, Picard MH, Protonotarios N, Saffitz JE, Sanborn DM, Steinberg JS, Tandri H, Thiene G, Towbin JA, Tsatsopoulou A, Wichter T, Zareba W, Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation 2010 121 1533 1541. doi: 10.1161/CIRCULATIONAHA.108.840827.
24. McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G, Camerini F, Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. Br Heart J 1994 71 215 218
25. Wilde AA, Postema PG, Di Diego JM, Viskin S, Morita H, Fish JM, Antzelevitch C, The pathophysiological mechanism underlying Brugada syndrome: depolarization versus repolarization. J Mol Cell Cardiol 2010 49 543 553. doi: 10.1016/j.yjmcc.2010.07.012.
26. Ruwald AC, Marcus F, Estes NA III, Link M, McNitt S, Polonsky B, Calkins H, Towbin JA, Moss AJ, Zareba W, Association of competitive and recreational sport participation with cardiac events in patients with arrhythmogenic right ventricular cardiomyopathy: results from the North American multidisciplinary study of arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 2015 36 1735 1743. doi: 10.1093/eurheartj/ehv110.
27. Adler A, Rosso R, Chorin E, Havakuk O, Antzelevitch C, Viskin S, Risk stratification in brugada syndrome: clinical characteristics, electrocardiographic parameters and auxiliary testing [published online ahead of print September 1, 2015]. Heart Rhythm. doi: 10.1016/j.hrthm.2015.08.038. http://www.heartrhythmjournal.com/article/S1547-5271(15)01128-5/abstract. Accessed October 26, 2015.
28. Zorzi A, Migliore F, Marras E, Marinelli A, Baritussio A, Allocca G, Leoni L, Perazzolo Marra M, Basso C, Buja G, Thiene G, Iliceto S, Delise P, Corrado D, Should all individuals with a nondiagnostic Brugada-electrocardiogram undergo sodium-channel blocker test? Heart Rhythm 2012 9 909 916. doi: 10.1016/j.hrthm.2012.02.009.
29. Basso C, Corrado D, Bauce B, Thiene G, Arrhythmogenic right ventricular cardiomyopathy. Circ Arrhythm Electrophysiol 2012 5 1233 1246. doi: 10.1161/CIRCEP.111.962035.
30. Martini B, Nava A, Thiene G, Buja GF, Canciani B, Scognamiglio R, Daliento L, Dalla Volta S, Ventricular fibrillation without apparent heart disease: description of six cases. Am Heart J 1989 118 1203 1209
31. Tada H, Aihara N, Ohe T, Yutani C, Hamada S, Miyanuma H, Takamiya M, Kamakura S, Arrhythmogenic right ventricular cardiomyopathy underlies syndrome of right bundle branch block, ST-segment elevation, and sudden death. Am J Cardiol 1998 81 519 522
32. Corrado D, Nava A, Buja G, Martini B, Fasoli G, Oselladore L, Turrini P, Thiene G, Familial cardiomyopathy underlies syndrome of right bundle branch block, ST segment elevation and sudden death. J Am Coll Cardiol 1996 27 443 448
33. Catalano O, Antonaci S, Moro G, Mussida M, Frascaroli M, Baldi M, Cobelli F, Baiardi P, Nastoli J, Bloise R, Monteforte N, Napolitano C, Priori SG, Magnetic resonance investigations in Brugada syndrome reveal unexpectedly high rate of structural abnormalities. Eur Heart J 2009 30 2241 2248. doi: 10.1093/eurheartj/ehp252.
34. Papavassiliu T, Wolpert C, Flüchter S, Schimpf R, Neff W, Haase KK, Düber C, Borggrefe M, Magnetic resonance imaging findings in patients with Brugada syndrome. J Cardiovasc Electrophysiol 2004 15 1133 1138. doi: 10.1046/j.1540-8167.2004.03681.x.
35. Papavassiliu T, Veltmann C, Doesch C, Haghi D, Germans T, Schoenberg SO, van Rossum AC, Schimpf R, Brade J, Wolpert C, Borggrefe M, Spontaneous type 1 electrocardiographic pattern is associated with cardiovascular magnetic resonance imaging changes in Brugada syndrome. Heart Rhythm 2010 7 1790 1796. doi: 10.1016/j.hrthm.2010.09.004.
36. Frustaci A, Priori SG, Pieroni M, Chimenti C, Napolitano C, Rivolta I, Sanna T, Bellocci F, Russo MA, Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome. Circulation 2005 112 3680 3687. doi: 10.1161/CIRCULATIONAHA.105.520999.
37. Ohkubo K, Watanabe I, Okumura Y, Takagi Y, Ashino S, Kofune M, Sugimura H, Nakai T, Kasamaki Y, Hirayama A, Morimoto S, Right ventricular histological substrate and conduction delay in patients with Brugada syndrome. Int Heart J 2010 51 17 23
38. Zumhagen S, Spieker T, Rolinck J, Baba HA, Breithardt G, Böcker W, Eckardt L, Paul M, Wichter T, Schulze-Bahr E, Absence of pathognomonic or inflammatory patterns in cardiac biopsies from patients with Brugada syndrome. Circ Arrhythm Electrophysiol 2009 2 16 23. doi: 10.1161/CIRCEP.107.737882.
39. Kasanuki H, Ohnishi S, Ohtuka M, Matsuda N, Nirei T, Isogai R, Shoda M, Toyoshima Y, Hosoda S, Idiopathic ventricular fibrillation induced with vagal activity in patients without obvious heart disease. Circulation 1997 95 2277 2285
40. Letsas KP, Efremidis M, Weber R, Korantzopoulos P, Protonotarios N, Prappa E, Kounas SP, Evagelidou EN, Xydonas S, Kalusche D, Sideris A, Arentz T, Epsilon-like waves and ventricular conduction abnormalities in subjects with type 1 ECG pattern of Brugada syndrome. Heart Rhythm 2011 8 874 878. doi: 10.1016/j.hrthm.2011.01.043.
41. Ikeda T, Sakurada H, Sakabe K, Sakata T, Takami M, Tezuka N, Nakae T, Noro M, Enjoji Y, Tejima T, Sugi K, Yamaguchi T, Assessment of noninvasive markers in identifying patients at risk in the Brugada syndrome: insight into risk stratification. J Am Coll Cardiol 2001 37 1628 1634
42. Morita H, Kusano KF, Miura D, Nagase S, Nakamura K, Morita ST, Ohe T, Zipes DP, Wu J, Fragmented QRS as a marker of conduction abnormality and a predictor of prognosis of Brugada syndrome. Circulation 2008 118 1697 1704. doi: 10.1161/CIRCULATIONAHA.108.770917.
43. Priori SG, Gasparini M, Napolitano C, Della Bella P, Ottonelli AG, Sassone B, Giordano U, Pappone C, Mascioli G, Rossetti G, De Nardis R, Colombo M, Risk stratification in Brugada syndrome: results of the PRELUDE (PRogrammed ELectrical stimUlation preDictive valuE) registry. J Am Coll Cardiol 2012 59 37 45. doi: 10.1016/j.jacc.2011.08.064.
44. Nademanee K, Veerakul G, Chandanamattha P, Chaothawee L, Ariyachaipanich A, Jirasirirojanakorn K, Likittanasombat K, Bhuripanyo K, Ngarmukos T, Prevention of ventricular fibrillation episodes in Brugada syndrome by catheter ablation over the anterior right ventricular outflow tract epicardium. Circulation 2011 123 1270 1279. doi: 10.1161/CIRCULATIONAHA.110.972612.
45. Corrado D, Basso C, Buja G, Nava A, Rossi L, Thiene G, Right bundle branch block, right precordial st-segment elevation, and sudden death in young people. Circulation 2001 103 710 717
46. Corrado D, Basso C, Buja G, Nava A, Thiene G, Antzelevitch C, Brugada sindrome: relationship to other arrhythmogenic sindromes. The Brugada Syndrome. From Bench to Bedside 2004 Oxford Blackwell Futura 111 118. In
47. Asimaki A, Kapoor S, Plovie E, Karin Arndt A, Adams E, Liu Z, James CA, Judge DP, Calkins H, Churko J, Wu JC, MacRae CA, Kléber AG, Saffitz JE, Identification of a new modulator of the intercalated disc in a zebrafish model of arrhythmogenic cardiomyopathy. Sci Transl Med 2014 6 261 266
48. Koopmann TT, Beekman L, Alders M, Meregalli PG, Mannens MM, Moorman AF, Wilde AA, Bezzina CR, Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort. Heart Rhythm 2007 4 752 755. doi: 10.1016/j.hrthm.2007.02.021.
49. Zorzi A, Rigato I, Pilichou K, Perazzolo Marra M, Migliore F, Mazzotti E, Gregori D, Thiene G, Daliento L, Iliceto S, Rampazzo A, Basso C, Bauce B, Corrado D, Phenotypic expression is a prerequisite for malignant arrhythmic events and sudden cardiac death in arrhythmogenic right ventricular cardiomyopathy [published online ahead of print July 2, 2015]. Europace. doi: 10.1093/europace/euv205. http://europace.oxfordjournals.org/content/early/2015/07/01/europace.euv205. Accessed October 26, 2015.
50. Te Riele AS, James CA, Groeneweg JA, Sawant AC, Kammers K, Murray B, Tichnell C, van der Heijden JF, Judge DP, Dooijes D, van Tintelen JP, Hauer RN, Calkins H, Tandri H, Approach to family screening in arrhythmogenic right ventricular dysplasia/cardiomyopathy [published online ahead of print August 27, 2015]. Eur Heart J. doi: 10.1093/eurheartj/ehv387. http://eurheartj.oxfordjournals.org/content/early/2015/08/26/eurheartj.ehv387.long. Accessed October 26, 2015.
51. Krishnan SC, Antzelevitch C, Flecainide-induced arrhythmias in canine ventricular epicardium: phase 2 reentry? Circulation 1993 87 562 572
52. Peters S, Arrhythmogenic right ventricular dysplasia-cardiomyopathy and provocable coved-Type ST-segment elevation in right precordial leads: clues from long-Term follow-up. Europace 2008 10 816 820. doi: 10.1093/europace/eun030.