Arrhythmogenic right ventricular cardiomyopathy. An update on pathophysiology, genetics, diagnosis, and risk stratification

Herzschrittmachertherapie und Elektrophysiologie

Volumn 23, Issue 3, 2012, Pages 186-195

  Paul, M ^a   Wichter, T ^b   Fabritz, L ^a,c   Waltenberger, J ^a   Schulze Bahr, E ^a   Kirchhof, P ^a,c  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b Heart Center Osnabruck Bad Rothenfelde   (Germany)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

Arrhythmogenic right ventricular cardiomyopathy; Genetics; Pathophysiology; Review; Risk stratification

Indexed keywords

ANTIARRHYTHMIC AGENT; DESMOGLEIN 2; DESMOPLAKIN; PLAKOGLOBIN; RYANODINE RECEPTOR; SOTALOL;

ARTICLE; CATHETER ABLATION; CELL CONTACT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DESMOCOLIN 2 GENE; DESMOGLEIN 2 GENE; DESMOPLAKIN GENE; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; GENE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HEART BUNDLE BRANCH BLOCK; HEART DEATH; HEART RIGHT VENTRICLE DYSPLASIA; HEART VENTRICLE TACHYCARDIA; HUMAN; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PEDIGREE ANALYSIS; PLAKOGLOBIN GENE; PLAKOPHILIN 2 GENE; PREVALENCE; PROGNOSIS; RISK ASSESSMENT; RISK FACTOR; RYANODINE RECEPTOR GENE; SENSITIVITY AND SPECIFICITY; SEX DIFFERENCE; STRATEGIC PLANNING; TRANSMEMBRANE 43 GENE; TRANSTHORACIC ECHOCARDIOGRAPHY;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; GENETIC PREDISPOSITION TO DISEASE; GERMANY; HUMANS; INCIDENCE; RISK FACTORS; SURVIVAL ANALYSIS; SURVIVAL RATE;

EID: 84868576025     PISSN: 09387412     EISSN: 14351544     Source Type: Journal    
DOI: 10.1007/s00399-012-0233-7     Document Type: Article

References (81)

1. Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP, Heart Rhythm Society (HRS), European Heart Rhythm Association (EHRA) (2011) 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). Europace 13:1077-1109
2. Asimaki A, Tandri H, Huang H, Halushka MK, Gautam S, Basso C, Thiene G, Tsatsopoulou A, Protonotarios N, McKenna WJ, Calkins H, Saffitz JE (2009) A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. N Engl J Med 360:1075-1084
3. Basso C, Wichter T, Danieli GA, Corrado D, Czarnowska E, Fontaine G, McKenna WJ, Nava A, Protonotarios N, Antoniades L, Wlodarska K, D'Alessi F, Thiene G (2004) Arrhythmogenic right ventricular cardiomyopathy: clinical registry and database, evaluation of therapies, pathology registry, DNA banking. Eur Heart J 25:531-534
4. Basso C, Corrado D, Marcus FI, Nava A, Thiene G (2009) Arrhythmogenic right ventricular cardiomyopathy. Lancet 373:1289-1300
5. Bauce B, Rampazzo A, Basso C, Mazzotti E, Rigato I, Steriotis A, Beffagna G, Lorenzon A, De Bortoli M, Pilichou K, Marra MP, Corbetti F, Daliento L, Iliceto S, Corrado D, Thiene G, Nava A (2011) Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations. Heart Rhythm 8:1686-1695
6. Bauce B, Nava A, Beffagna G, Basso C, Lorenzon A, Smaniotto G, De Bortoli M, Rigato I, Mazzotti E, Steriotis A, Marra MP, Towbin JA, Thiene G, Danieli GA, Rampazzo A (2010) Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart Rhythm 7:22-29
7. Bauce B, Frigo G, Marcus FI, Basso C, Rampazzo A, Maddalena F, Corrado D, Winnicki M, Daliento L, Rigato I, Steriotis A, Mazzotti E, Thiene G, Nava A (2008) Comparison of clinical features of arrhythmogenic right ventricular cardiomyopathy in men versus women. Am J Cardiol 102:1252-1257
8. Blomstrom-Lundqvist C, Sabel KG, Olsson SB (1987) A long-term follow up of 15 patients with arrhythmogenic right ventricular dysplasia. Br Heart J 58:477-488
9. Bomma C, Dalal D, Tandri H, Prakasa K, Nasir K, Roguin A, Piccini J, Dong J, Mahadevappa M, Tichnell C, James C, Lima JA, Fishman E, Calkins H, Bluemke DA (2007) Evolving role of multidetector computed tomography in evaluation of arrhythmogenic right ventricular dysplasia/ cardiomyopathy. Am J Cardiol 100:99-105
10. Corrado D, Basso C, Pilichou K, Thiene G (2011) Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy/ dysplasia. Heart 97:530-539
11. Corrado D, Calkins H, Link MS, Leoni L, Favale S, Bevilacqua M, Basso C, Ward D, Boriani G, Ricci R, Piccini JP, Dalal D, Santini M, Buja G, Iliceto S, Estes NA 3rd, Wichter T, McKenna WJ, Thiene G, Marcus FI (2010) Prophylactic implantable defibrillator in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia and no prior ventricular fibrillation or sustained ventricular tachycardia. Circulation 122:1144-1152
12. 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 (2008) Three-dimensional electroanatomical voltage mapping and histologic evaluation of myocardial substrate in right ventricular outflow tract tachycardia. J Am Coll Cardiol 51:731-739
13. Corrado D, Corrado D, Leoni L, Link MS, Della Bella P, Gaita F, Curnis A, Salerno JU, Igidbashian D, Raviele A, Disertori M, Zanotto G, Verlato R, Vergara G, Delise P, Turrini P, Basso C, Naccarella F, Maddalena F, Estes NA 3rd, Buja G, Thiene G (2003) Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/ dysplasia. Circulation 108:3084-3091
14. Corrado D, Fontaine G, Marcus FI, McKenna WJ, Nava A, Thiene G, Wichter T (2000) Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. Circulation 101:e101- e106
15. 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 (1997) Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. J Am Coll Cardiol 30:1512-1520
16. Corrado D, Basso C, Thiene G (1996) Pathological findings in victims of sport-related sudden cardiac death. Sports Exerc Injury 2:78-86
17. Corrado D, Thiene G, Nava A, Rossi L, Penneli N (1990) Sudden death in young competitive athletes: clinicopathologic correlation in 22 cases. Am J Med 89:588-596
18. Cox MG, Van Der Smagt JJ, Noorman M, Wiesfeld AC, Volders PG, van Langen IM, Atsma DE, Dooijes D, Houweling AC, Loh P, Jordaens L, Arens Y, Cramer MJ, Doevendans PA, van Tintelen JP, Wilde AA, Hauer RN (2010) Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: impact of new task force criteria. Circ Arrhythm Electrophysiol 3:126-133
19. Dalal D, Molin LH, Piccini J, Tichnell C, James C, Bomma C, Prakasa K, Towbin JA, Marcus FI, Spevak PJ, Bluemke DA, Abraham T, Russell SD, Calkins H, Judge DP (2006) Clinical features of arrhythmogenic right ventricular dysplasia/ cardiomyopathy associated with mutations in plakophilin-2. Circulation 113:1641-1649
20. Dalal D, Nasir K, Bomma C, Prakasa K, Tandri H, Piccini J, Roguin A, Tichnell C, James C, Russell SD, Judge DP, Abraham T, Spevak PJ, Bluemke DA, Calkins H (2005) Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation 112:3823-3832
21. Daliento L, Turrini P, Nava A, Rizzoli G, Angelini A, Buja G, Scognamiglio R, Thiene G (1995) Arrhythmogenic right ventricular cardiomyopathy in young versus adult patients: similarities and differences. J Am Coll Cardiol 25:655-664
22. Fabriz L, Fabritz L, Hoogendijk MG, Scicluna BP, van Amersfoorth SC, Fortmueller L, Wolf S, Laakmann S, Kreienkamp N, Piccini I, Breithardt G, Noppinger PR, Witt H, Ebnet K, Wichter T, Levkau B, Franke WW, Pieperhoff S, de Bakker JM, Coronel R, Kirchhof P (2011) Load-reducing therapy prevents development of arrhythmogenic right ventricular cardiomyopathy in plakoglobin-deficient mice. J Am Coll Cardiol 57:740-750
23. Fontaine G, Fontaliran F, Frank R (1998) Arrhythmogenic right ventricular cardiomyopathies: clinical forms and main differential diagnoses. Circulation 97:1532-1535
24. Fressart V, Duthoit G, Donal E, Probst V, Deharo JC, Chevalier P, Klug D, Dubourg O, Delacretaz E, Cosnay P, Scanu P, Extramiana F, Keller D, Hidden-Lucet F, Simon F, Bessirard V, Roux-Buisson N, Hebert JL, Azarine A, Casset-Senon D, Rouzet F, Lecarpentier Y, Fontaine G, Coirault C, Frank R, Hainque B, Charron P (2010) Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/ cardiomyopathy: spectrum of mutations and clinical impact in practice. Europace 12:861-868
25. Furlanello F, Bertoldi A, Dallago M, Furlanello C, Fernando F, Inama G, Pappone C, Chierchia S (1998) Cardiac arrest and sudden death in competitive athletes with arrhythmogenic right ventricular dysplasia. Pacing Clin Electrophysiol 21:331-335
26. Garcia-Gras E, Lombardi R, Giocondo MJ, Willerson JT, Schneider MD, Khoury DS, Marian AJ (2006) Suppression of canonical Wnt/beta-catenin signalling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J Clin Invest 116:2012-2021
27. Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L (2004) Mutations in the desmosomal protein plakophilin- 2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 36:1162-1164
28. Grossmann KS, Grund C, Huelsken J, Behrend M, Erdmann B, Franke WW, Birchmeier W (2004) Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. J Cell Biol 167:149-160
29. Heidbuchel H, Hoogsteen J, Fagard R, Vanhees L, Ector H, Willems R, Van Lierde J (2003) High prevalence of right ventricular involvement in endurance athletes with ventricular arrhythmias. Role of an electrophysiologic study in risk stratification. Eur Heart J 24:1473-1480
30. Hulot JS, Jouven X, Empana JP, Frank R, Fontaine G (2004) Natural history and risk stratification of arrhythmogenic right ventricular dysplasia/ cardiomyopathy. Circulation 110:1879-1884
31. Indik JH, Wichter T, Gear K, Dallas WJ, Marcus FI (2008) Quantitative assessment of angiographic right ventricular wall motion in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). J Cardiovasc Electrophysiol 19:39-45
32. Jamora C, Fuchs E (2002) Intercellular adhesion, signalling and the cytoskeleton. Nat Cell Biol 4:E101-E108
33. Kapplinger JD, Landstrom AP, Salisbury BA, Callis TE, Pollevick GD, Tester DJ, Cox MG, Bhuiyan Z, Bikker H, Wiesfeld AC, Hauer RN, van Tintelen JP, Jongbloed JD, Calkins H, Judge DP, Wilde AA, Ackerman MJ (2011) Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol 57:2317-2327
34. Kirchhof P, Fabritz L, Zwiener M, Witt H, Schafers M, Zellerhoff S, Paul M, Athai T, Hiller KH, Baba HA, Breithardt G, Ruiz P, Wichter T, Levkau B (2006) Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice. Circulation 114:1799-1806
35. Kjaergaard J, Hastrup Svendsen J, Sogaard P, Chen X, Bay Nielsen H, Kober L, Kjaer A, Hassager C (2007) Advanced quantitative echocardiography in arrhythmogenic right ventricular cardiomyopathy. J Am Soc Echocardiogr 20:27-35
36. Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, Dieding M, Walhorn V, Anselmetti D, Gerdes D, Bohms B, Schulz U, Zu Knyphausen E, Vorgerd M, Gummert J, Milting H (2010) De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. Hum Mol Genet 19:4595-4607
37. La Gerche A, Burns AT, Mooney DJ, Inder WJ, Taylor AJ, Bogaert J, Macisaac AI, Heidbuchel H, Prior DL (2012) Exercise-induced right ventricular dysfunction and structural remodelling in endurance athletes. Eur Heart J 33:998-1006
38. Lahtinen AM, Lehtonen E, Marjamaa A, Kaartinen M, Helio T, Porthan K, Oikarinen L, Toivonen L, Swan H, Jula A, Peltonen L, Palotie A, Salomaa V, Kontula K (2011) Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy. Heart Rhythm 8:1214-1221
39. Le Guludec D, Gauthier H, Porcher R, Frank R, Daou D, Benelhadj S, Leenhardt A, Lavergne T, Faraggi M, Slama MS (2001) Prognostic value of radionuclide angiography in patients with right ventricular arrhythmias. Circulation 103:1972-1976
40. Le Guludec D, Gauthier H, Porcher R, Frank R, Daou D, Benelhadj S, Leenhardt A, Lavergne T, Faraggi M, Slama MS (2001) Prognostic value of radionuclide angiography in patients with right ventricular arrhythmias. Circulation 103:1972-1976
41. Leclercq JF, Coumel P (1993) Late potentials in arrhythmogenic right ventricular dysplasia. Prevalence, diagnostic and prognostic values. Eur Heart J 14:67-73
42. Lombardi R, da Graca Cabreira-Hansen M, Bell A, Fromm RR, Willerson JT, Marian AJ (2011) Nuclear plakoglobin is essential for differentiation of cardiac progenitor cells to adipocytes in arrhythmogenic right ventricular cardiomyopathy. Circ Res 109:1342-1353
43. MacRae CA, Birchmeier W, Thierfelder L (2006) Arrhythmogenic right ventricular cardiomyopathy: moving toward mechanism. J Clin Invest 116:1825-1828
44. 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 (2010) Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J 31:806-814
45. Marcus FI, Zareba W, Calkins H, Towbin JA, Basso C, Bluemke DA, Estes NA 3rd, Picard MH, Sanborn D, Thiene G, Wichter T, Cannom D, Wilber DJ, Scheinman M, Duff H, Daubert J, Talajic M, Krahn A, Sweeney M, Garan H, Sakaguchi S, Lerman BB, Kerr C, Kron J, Steinberg JS, Sherrill D, Gear K, Brown M, Severski P, Polonsky S, McNitt S (2009) Arrhythmogenic right ventricular cardiomyopathy/dysplasia clinical presentation and diagnostic evaluation: results from the North American Multidisciplinary Study. Heart Rhythm 6:984-992
46. Marcus F, Towbin JA, Zareba W, Moss A, Calkins H, Brown M, Gear K, ARVD/C Investigators (2003) Arrhythmogenic right ventricular dysplasia/ cardiomyopathy (ARVD/C): a multidisciplinary study-design and protocol. Circulation 107:2975-2978
47. Marcus FI, Fontaine GH, Frank R, Gallagher JJ, Reiter MJ (1989) Long-term follow-up in patients with arrhythmogenic right ventricular disease. Eur Heart J 10:68-73
48. Marcus FI, Fontaine G, Guiraudon G, Frank R, Laurenceau JL, Malergue C, Grosgogeat Y (1982) Right ventricular dysplasia: a report of 24 cases. Circulation 65:384-399
49. Maron BJ, Chaitman BR, Ackerman MJ, Bayes de- Luna A, Corrado D, Crosson JE, Deal BJ, Driscoll DJ, Estes NA 3rd, Araujo CG, Liang DH, Mitten MJ, Myerburg RJ, Pelliccia A, Thompson PD, Towbin JA, Van Camp SP, Working Groups of the American Heart Association Committee on Exercise, Cardiac Rehabilitation, and Prevention; Councils on Clinical Cardiology and Cardiovascular Disease in the Young (2004) Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. Circulation 109:2807-2816
50. McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G, Camerini F (1994) 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 71:215-218
51. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ (2000) Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355:2119-2124
52. Mertens C, Hofmann I, Wang Z, Teichmann M, Sepehri Chong S, Schnolzer M, Franke WW (2001) Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2. Proc Natl Acad Sci U S A 98:7795-7800
53. Meurs KM, Meurs KM, Mauceli E, Lahmers S, Acland GM, White SN, Lindblad-Toh K (2010) Genome- wide association identifies a deletion in the 3? untranslated region of striatin in a canine model of arrhythmogenic right ventricular cardiomyopathy. Hum Genet 128:315-324
54. Nava A, Bauce B, Basso C, Muriago M, Rampazzo A, Villanova C, Daliento L, Buja G, Corrado D, Danieli GA, Thiene G (2000) Clinical profile and longterm follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 36:2226-2233
55. Nava A, Thiene G, Canciani B, Scognamiglio R, Daliento L, Buja G, Martini B, Stritoni P, Fasoli G (1988) Familial occurrence of right ventricular dysplasia: a study involving nine families. J Am Coll Cardiol 12:1222-1228
56. Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP (2009) Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 9:2761-2766
57. Ott P, Marcus FI, Sobonya RE, Morady F, Knight BP, Fuenzalida CE (2003) Cardiac sarcoidosis masquerading as right ventricular dysplasia. Pacing Clin Electrophysiol 26:1498-1503
58. O'Donnell D, Cox D, Bourke J, Mitchell L, Furniss S (2003) Clinical and electrophysiological differences between patients with arrhythmogenic right ventricular dysplasia and right ventricular outflow tract tachycardia. Eur Heart J 24:801-810
59. Paul M, Wichter T, Kies P, Gerss J, Wollmann C, Rahbar K, Eckardt L, Breithardt G, Schober O, Schulze- Bahr E, Schafers M (2011) Cardiac sympathetic dysfunction in genotyped patients with arrhythmogenic right ventricular cardiomyopathy and risk of recurrent ventricular tachyarrhythmias. J Nucl Med 52:1559-1565
60. Paul M, Stypmann J, Gerss J, Wirdeier S, Zumhagen S, Breithardt G, Schulze-Bahr E, Wichter T (2011) Safety of endomyocardial biopsy in patients with arrhythmogenic right ventricular cardiomyopathy: a study analyzing 161 diagnostic procedures. JACC Cardiovasc Interv 4:1142-1148
61. Paul M, Zumhagen S, Stallmeyer B, Koopmann M, Spieker T, Schulze-Bahr E (2009) Genes causing inherited forms of cardiomyopathies. A current compendium. Herz 34:98-109
62. Paul M, Schulze-Bahr E, Breithardt G, Wichter T (2003) Genetics of arrhythmogenic right ventricular cardiomyopathy-status quo and future perspectives. Z Kardiol 92:128-136
63. Philips B, Madhavan S, James C, Tichnell C, Murray B, Dalal D, Bhonsale A, Nazarian S, Judge DP, Russell SD, Abraham T, Calkins H, Tandri H (2012) Outcomes of catheter ablation of ventricular tachycardia in arrhythmogenic right ventricular dysplasia/ cardiomyopathy. Circ Arrhythm Electrophysiol 5:499-505
64. Pinamonti B, Dragos AM, Pyxaras SA, Merlo M, Pivetta A, Barbati G, Di Lenarda A, Morgera T, Mestroni L, Sinagra G (2011) Prognostic predictors in arrhythmogenic right ventricular cardiomyopathy: results from a 10-year registry. Eur Heart J 32:1105-1113
65. Protonotarios N, Anastasakis A, Antoniades L, Chlouverakis G, Syrris P, Basso C, Asimaki A, Theopistou A, Stefanadis C, Thiene G, McKenna WJ, Tsatsopoulou A (2011) Arrhythmogenic right ventricular cardiomyopathy/dysplasia on the basis of the revised diagnostic criteria in affected families with desmosomal mutations. Eur Heart J 32:1097-1104
66. Richardson P, McKenna WJ, Bristow M, Maisch B, Mautner B, O'Connell J, Olsen E, Thiene G, Goodwin J, Gyarfas I, Martin I, Nordet P (1996) Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies. Circulation 93:841-842
67. Rickelt S, Pieperhoff S (2012) Mutations with pathogenic potential in proteins located in or at the composite junctions of the intercalated disk connecting mammalian cardiomyocytes: a reference thesaurus for arrhythmogenic cardiomyopathies and for Naxos and Carvajal diseases. Cell Tissue Res 348:325-333
68. Roguin A, Bomma CS, Nasir K, Tandri H, Tichnell C, James C, Rutberg J, Crosson J, Spevak PJ, Berger RD, Halperin HR, Calkins H (2004) Implantable cardioverter-defibrillators in patients with arrhythmogenic right ventricular dysplasia/ cardiomyopathy. J Am Coll Cardiol 43:1843-1852
69. Saffitz JE, Asimaki A, Huang H (2010) Arrhythmogenic right ventricular cardiomyopathy: new insights into mechanisms of disease. Cardiovasc Pathol 19:166-70
70. Sen-Chowdhry S, Prasad SK, Syrris P, Wage R, Ward D, Merrifield R, Smith GC, Firmin DN, Pennell DJ, McKenna WJ (2006) Cardiovascular magnetic resonance in arrhythmogenic right ventricular cardiomyopathy revisited: comparison with task force criteria and genotype. J Am Coll Cardiol 48:2132-2140
71. Tabib A, Miras A, Taniere P, Loire R (1999) Undetected cardiac lesions cause unexpected sudden cardiac death during occasional sport activity: a report on 80 cases. Eur Heart J 20:900-903
72. Taylor M, Graw S, Sinagra G, Barnes C, Slavov D, Brun F, Pinamonti B, Salcedo EE, Sauer W, Pyxaras S, Anderson B, Simon B, Bogomolovas J, Labeit S, Granzier H, Mestroni L (2011) Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy- overlap syndromes. Circulation 124:876-885
73. Thiene G, Basso C, Calabrese F, Angelini A, Valente M (2000) Pathology and pathogenesis of arrhythmogenic right ventricular cardiomyopathy. Herz 25:210-215
74. Thiene G, Nava A, Corrado D, Rossi L, Pennelli N (1988) Right ventricular cardiomyopathy and sudden cardiac death in young people. N Eng J Med 318:129-133
75. Wichter T, Corrado D, Paul M (2007) Risk stratification and antiarrhythmic drug therapy in arrhythmogenic right ventricular cardiomyopathy/ dysplasia. (ARVC/D). In: Marcus FI, Nava A, Thiene G (eds) Arrhythmogenic right ventricular cardiomyopathy/Dysplasia. Springer, Berlin, pp 171-180
76. Wichter T, Breithardt G (2005) Implantable cardioverter- defibrillator therapy in arrhythmogenic right ventricular cardiomyopathy: a role for genotyping in decision-making? J Am Coll Cardiol 45:409-411
77. Wichter T, Paul M, Wollmann C, Acil T, Gerdes P, Ashraf O, Tjan TD, Soeparwata R, Block M, Borggrefe M, Scheld HH, Breithardt G, Bocker D (2004) Implantable cardioverter/defibrillator therapy in arrhythmogenic right ventricular cardiomyopathy: single-center experience of long-term followup and complications in 60 patients. Circulation 109:1503-1508
78. Wichter T, Schafers M, Rhodes CG, Borggrefe M, Lerch H, Lammertsma AA, Hermansen F, Schober O, Breithardt G, Camici PG (2000) Abnormalities of cardiac sympathetic innervation in arrhythmogenic right ventricular cardiomyopathy: quantitative assessment of presynaptic norepinephrine reuptake and postsynaptic beta-adrenergic receptor density with positron emission tomography. Circulation 101:1552-1558
79. Wichter T, Hindricks G, Lerch H, Bartenstein P, Borggrefe M, Schober O, Breithardt G (1994) Regional myocardial sympathetic dysinnervation in arrhythmogenic right ventricular cardiomyopathy: an analysis using 123I-Meta-Iodobenzylguanidine scintigraphy. Circulation 89:667-683
80. Wichter T, Borggrefe M, Haverkamp W, Chen X, Breithardt G (1992) Efficacy of antiarrhythmic drugs in patients with arrhythmogenic right ventricular disease. Results in patients with inducible and noninducible ventricular tachycardia. Circulation 86:29-37
81. Quatra G, Syrris P, Ashworth M, Jenkins S, Zuborne Alapi K, Morgan J, Muir A, Pantazis A, McKenna WJ, Elliott PM (2012) Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 33:1128-1136