Korean Circ J.  2008 Oct;38(10):514-523. 10.4070/kcj.2008.38.10.514.

Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

• Cho Y

• KMID: 2225715
• DOI: http://doi.org/10.4070/kcj.2008.38.10.514

Abstract

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is characterized by rogressive, fibrofatty replacement of the myocardium, ventricular arrhythmia, sudden death, and progressive heart failure. ARVC/D may be an important cause of syncope, ventricular arrhythmias, electrocardiogram (ECG) abnormalities and/or non-ischemic wall motion abnormalities. Some patients, however, do not have a typical clinical presentation. Thus, a high clinical suspicion and extensive studies may be needed to establish the diagnosis of ARVC/D. Recent progress in diagnostic modalities and a better understanding of the clinical manifestations of ARVC/D may lead to optimal management of affected patients.

Keyword

Cardiomyopathies; Arrhythmia; Right ventricle

MeSH Terms

Arrhythmias, Cardiac
Cardiomyopathies
Death, Sudden
Electrocardiography
Heart Failure
Heart Ventricles
Humans
Myocardium
Syncope

Figure

• 

  Fig. 1 Routine ECG in a patient with arrhythmognic right ventricular cardiomyopathy/dysplasia showing diffuse precordial T-wave inversion in the right precordial leads and an epsilon wave (arrow) in lead V1.

• 

  Fig. 2 Two-D echocardiography showing localized (A) and diffuse (B) dilatation of the right ventricle in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia.

• 

  Fig. 3 Magnetic resonance imaging of a patient with arrhythmogenic right ventricular cardiomyopathy/dysplasia. The right ventricle was dilated and fatty infiltration of the right ventricular free wall, apex, and left ventricular apex was observed.

• 

  Fig. 4 Endomyocardial biopsy from patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia showing typical fatty (A) and fibrofatty (B) infiltration.

Reference

1. Marcus FI, Fontaine GH, Guiraudon G, et al. Right ventricular dysplasia: a report of 24 adult cases. Circulation. 1982. 65:384–398.

2. 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.

3. Choi KJ, Kwon HC, Nam CB, et al. A case of arrhythmogenic right ventricular dysplasia. Korean Circ J. 1995. 25:1057–1063.

4. Kim YK, Han DS, Kweon SH, Lee MI, Lee HJ. A case of arrhythmogenic right ventricular dysplasia. Korean Circ J. 1996. 26:1204–1209.

5. Corrado D, Basso C, Thiene G, et al. Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/ dysplasia: a multicenter study. J Am Coll Cardiol. 1997. 30:1512–1520.

6. Park TI, Kim DJ, Sohn YK, et al. Arrhythmogenic right ventricular cardiomyopathy as a cause of sudden unexplained death. Korean Circ J. 2001. 31:335–340.

7. Cho Y, Park T, Yang DH, et al. Arrhythmogenic right ventricular cardiomyopathy and sudden cardiac death in young Koreans. Circ J. 2003. 67:925–928.

8. Cho Y, Park T, Shin D, et al. Clinical manifestations of arrhythmogenic right ventricular cardiomyopathy in Korean patients. Int J Cardiol. 2007. 122:137–142.

9. Fox PR, Maron BJ, Basso C, Liu SK, Thiene G. Spontaneously occurring arrhythmogenic right ventricular cardiomyopathy in the domestic cat: a new animal model similar to the human disease. Circulation. 2000. 102:1863–1870.

10. Basso C, Fox PR, Meurs KM, et al. Arrhythmogenic right ventricular cardiomyopathy causing sudden cardiac death in boxer dogs: a new animal model of human disease. Circulation. 2004. 109:1180–1185.

11. Calkins H. Arrhythmogenic right-ventricular dysplasia/cardiomyopathy. Curr Opin Cardiol. 2006. 21:55–63.

12. Nava A, Thiene G, Canciani B, et al. Familial occurrence of right ventricular dysplasia: a study involving nine families. J Am Coll Cardiol. 1988. 12:1222–1228.

13. Nava A, Bauce B, Basso C, et al. Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2000. 36:2226–2233.

14. Coonar AS, Protonotarios N, Tsatsopoulou A, et al. Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. Circulation. 1998. 97:2049–2058.

15. McKoy G, Protonotarios N, Crosby A, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000. 355:2119–2124.

16. Alcalai R, Metzger S, Rosenheck S, Meiner V, Chajek-Shaul T. A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Cardiol. 2003. 42:319–327.

17. Rampazzo A, Nava A, Danieli GA, et al. The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Hum Mol Genet. 1994. 3:959–962.

18. Rampazzo A, Nava A, Erne P, et al. A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Hum Mol Genet. 1995. 4:2151–2154.

19. Severini GM, Krajinovic M, Pinamonti B, et al. A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14. Genomics. 1996. 31:193–200.

20. Rampazzo A, Nava A, Miorin M, et al. ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm. Genomics. 1997. 45:259–263.

21. Ahmad F, Li D, Karibe A, et al. Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. Circulation. 1998. 98:2791–2795.

22. Li D, Ahmad F, Gardner MJ, et al. The locus of a novel gene responsible for arrhythmogenic right ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14. Am J Hum Genet. 2000. 66:148–156.

23. Mallat Z, Tedgui A, Fontaliran F, Frank R, Durigon M, Fontaine G. Evidence of apoptosis in arrhythmogenic right ventricular dysplasia. N Engl J Med. 1996. 335:1190–1196.

24. Valente M, Calabrese F, Thiene G, et al. In vivo evidence of apoptosis in arrhythmogenic right ventricular cardiomyopathy. Am J Pathol. 1998. 152:479–484.

25. Corrado D, Thiene G, Nava A, Rossi L, Pennelli N. Sudden death in young competitive athletes: clinicopathologic correlations in 22 cases. Am J Med. 1990. 89:588–596.

26. Hermida JS, Minassian A, Jarry G, et al. Familial incidence of late ventricular potentials and electrocardiographic abnormalities in arrhythmogenic right ventricular dysplasia. Am J Cardiol. 1997. 79:1375–1380.

27. Hamid MS, Norman M, Quraishi A, et al. Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/ dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol. 2002. 40:1445–1450.

28. Corrado D, Basso C, Thiene G. Arrhythmogenic right ventricular cardiomyopathy: diagnosis, prognosis, and treatment. Heart. 2000. 83:588–595.

29. Hulot JS, Jouven X, Empana JP, Frank R, Fontaine G. Natural history and risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation. 2004. 110:1879–1884.

30. Burke AP, Farb A, Tashko G, Viramini R. Arrhythmogenic right ventricular cardiomyopathy and fatty replacement of the right ventricular myocardium: are they different disease? Circulation. 1998. 97:1571–1580.

31. Kies P, Bootsma M, Bax J, Schalij MJ, van der Wall EE. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: screening, diagnosis, and treatment. Heart Rhythm. 2006. 3:225–234.

32. Tabib A, Loire R, Chalabreysse L, et al. Circumstances of death and gross and microscopic observations in a series of 200 cases of sudden death associated with arrhythmogenic right ventricular cardiomyopathy and/or dysplasia. Circulation. 2003. 108:3000–3005.

33. Frances RJ. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: a review and update. Int J Cardiol. 2006. 110:279–287.

34. Heidbüchel H, Hoogsteen J, Fagard R, et al. High prevalence of right ventricular involvement in endurance athletes with ventricular arrhythmias: role of an electrophysiologic study in risk stratification. Eur Heart J. 2003. 24:1473–1480.

35. McKenna WJ, Thiene G, Nava A, et al. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Br Heart J. 1994. 71:215–218.

36. Bomma C, Rutberg J, Tandri H, et al. Misdiagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Cardiovasc Electrophysiol. 2004. 15:300–306.

37. Marchlinski FE, Zado E, Dixit S, et al. Electroanatomic substrate and outcome of catheter ablative therapy for ventricular tachycardia in setting of right ventricular cardiomyopathy. Circulation. 2004. 110:2293–2298.

38. Nasir K, Bomma C, Tandri H, et al. Electrocardiographic features of arrhythmogenic right ventricular dysplasia/cardiomyopathy according to disease severity: a need to broaden diagnostic criteria. Circulation. 2004. 110:1527–1534.

39. Sen-Chowdhry S, Lowe MD, Sporton SC, McKenna WJ. Arrhythmogenic right ventricular cardiomyopathy: clinical presentation, diagnosis, and management. Am J Med. 2004. 117:685–695.

40. Corrado D, Leoni L, Link MS, et al. Implantable cardioverterdefibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation. 2003. 108:3084–3091.

41. Tonet JL, Castro-Miranda R, Iwa T, Poulain F, Frank R, Fontaine GH. Frequency of supraventricular tachyarrhythmias in arrhythmogenic right ventricular dysplasia. Am J Cardiol. 1991. 67:1153.

42. Yoerger DM, Marcus F, Sherill D, et al. Echocardiographic findings in patients meeting task force criteria for arrhythmogenic right ventricular dysplasia: new insights from the multidisciplinary study of right ventricular dysplasia. J Am Coll Cardiol. 2005. 45:860–865.

43. Tandri H, Saranathan M, Rodriguez ER, et al. Noninvasive detection of myocardial fibrosis in arrhythmogenic right ventricular cardiomyopathy using delayed-enhancement magnetic resonance imaging. J Am Coll Cardiol. 2005. 45:98–103.

44. Sen-Chowdhry S, Prasad SK, Syrris P, et al. Cardiovascular magnetic resonance in arrhythmogenic right ventricular cardiomyopathy revisited: comparison with task force criteria and genotype. J Am Coll Cardiol. 2006. 48:2132–2140.

45. Bomma C, Dalal D, Tandri H, et al. Evolving role of multidetector computed tomography in evaluation of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Cardiol. 2007. 100:99–105.

46. Chimenti C, Pieroni M, Maseri A, Frustaci A. Histologic findings in patients with clinical and instrumental diagnosis of sporadic arrhythmogenic right ventricular dysplasia. J Am Coll Cardiol. 2004. 43:2305–2313.

47. Moric-Janiszewska E, Markiewicz-Loskot G. Review on the genetics of arrhythmogenic right ventricular dysplasia. Europace. 2007. 9:259–266.

48. Roguin A, Bomma CS, Nasir K, et al. Implantable cardioverterdefibrillators in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol. 2004. 43:1843–1852.

49. Corrado D, Basso C, Leoni L, et al. 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.

50. Peters S, Peters H, Thierfelder L. Risk stratification of sudden cardiac death and malignant ventricular arrhythmias in right ventricular dysplasia-cardiomyopathy. Int J Cardiol. 1999. 71:243–250.

51. Wichetr T, Paul M, Wollmann C, et al. Implantable cardioverter/ defibrillator therapy in arrhythmogenic right ventricular cardiomyopathy: single-center experience of long-term follow-up and complications in 60 patients. Circulation. 2004. 109:1503–1508.

52. Wichter T, Paul M, Eckardt L, et al. Arrhythmogenic right ventricular cardiomyopathy: antiarrhythmic drugs, catheter ablation, or ICD? Herz. 2005. 30:91–101.

53. Buja G, Estes NA 3rd, Wichter T, Corrado D, Marcus F, Thiene G. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: risk stratification and therapy. Prog Cardiovasc Dis. 2008. 50:282–293.

54. Wichter T, Borggrefe M, Haverkamp W, Chen X, Breithardt G. Efficacy of antiarrhythmic drugs in patients with arrhythmogenic right ventricular disease: results in patients with inducible and noninducible ventricular tachycardia. Circulation. 1992. 86:29–37.

55. Verma A, Kilicaslan F, Schweikert RA, et al. Short- and longterm success of substrate-based mapping and ablation of ventricular tachycardia in arrhythmogenic right ventricular dysplasia. Circulation. 2005. 111:3209–3216.

56. Kirchhof P, Fabritz L, Zwiener M, et al. Age- and trainingdependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice. Circulation. 2006. 114:1799–1806.

57. Kim H, Cho Y, Park Y, et al. Underlying cardiomyopathy in patients with ST-segment elevation in the right precordial leads. Circ J. 2006. 70:719–725.

58. Peters S, Trümmel M, Denecke S, Koehler B. Results of ajmaline testing in patients with arrhythmogenic right ventricular dysplasiacardiomyopathy. Int J Cardiol. 2004. 95:207–210.