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Diagnosis: Task Force Criteria including Modifications for Family Members

  • Deirdre Ward
  • Petros Syrris
  • Srijita Sen-Chowdhry
  • William J. McKenna

Abstract

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disorder associated with the occurrence of ventricular arrhythmias arising from the right ventricle in the presence of subtle or diffuse morphological changes [1, 2, 3, 4]. Histologically the condition is characterized by myocyte loss with fatty or fibrofatty replacement [5]. The reclassification of cardiomyopathies by the World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies in 1995 defined ARVC/D as being “characterized by progressive fibrofatty replacement of the right ventricular myocardium, initially with typical regional, and later global, right and some left ventricular involvement, with relative sparing of the septum. Familial disease is common, with autosomal dominant inheritance and incomplete penetrance; a recessive form is described. Presentation with arrhythmias and sudden death is common, particularly in the young” [6].

Keywords

Ventricular Tachycardia Minor Criterion Late Potential Right Bundle Branch Block Precordial Lead 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Marcus FI, Fontaine GH, Guiraudon G et al (1982) Right ventricular dysplasia: A report of 24 adult cases. Circulation 65:384–398PubMedGoogle Scholar
  2. 2.
    Fontaine G, Guiraudon G, Frank R et al (1982) Arrhythmogenic right ventricular dysplasia and Uhl’s disease. Arch Mal Coeur Vaiss 75:361–371PubMedGoogle Scholar
  3. 3.
    Thiene G, Nava A, Corrado D et al (1988) Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med 318:129–133PubMedCrossRefGoogle Scholar
  4. 4.
    Corrado D, Thiene G, Nava A et al (1990) Sudden death in young competitive athletes: Clinicopathologic correlations in 22 cases. Am J Med 89:588–596PubMedCrossRefGoogle Scholar
  5. 5.
    Basso C, Thiene G, Corrado D et al (1996) Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis? Circulation 94:983–991PubMedGoogle Scholar
  6. 6.
    Richardson P, McKenna W, Bristow M et al (1996) Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation 93:841–842PubMedGoogle Scholar
  7. 7.
    Nava A, Scognamiglio R, Thiene G et al (1987) A polymorphic form of familial arrhythmogenic right ventricular dysplasia. Am J Cardiol 59:1405–1409PubMedCrossRefGoogle Scholar
  8. 8.
    Daliento L, Rizzoli G, Thiene G et al (1990) Diagnostic accuracy of right ventriculography in arrhythmogenic right ventricular cardiomyopathy. Am J Cardiol 66:741–745PubMedCrossRefGoogle Scholar
  9. 9.
    Baandrup U, Florio RA, Rehahn M et al (1981) Critical analysis of endomyocardial biopsies from patients suspected of having cardiomyopathy. II: Comparison of histology and clinical/haemodynamic information. Br Heart J 45:487–493PubMedCrossRefGoogle Scholar
  10. 10.
    Fitchett DH, Sugrue DD, MacArthur CG et al (1984) Right ventricular dilated cardiomyopathy. Br Heart J 51:25–29PubMedCrossRefGoogle Scholar
  11. 11.
    Thiene G, Corrado D, Nava A et al (1991) Right ventricular cardiomyopathy: Is there evidence of an inflammatory aetiology? Eur Heart J 12:22–25PubMedGoogle Scholar
  12. 12.
    Morgera T, Salvi A, Alberti E et al (1985) Morphological findings in apparently idiopathic ventricular tachycardia. An echocardiographic haemodynamic and histologic study. Eur Heart J 6:323–334PubMedGoogle Scholar
  13. 13.
    Bonacina E, Recalcati F, Mangiavacchi M et al (1989) Interstitial myocardial lipomatosis: A morphological study on endomyocardial biopsies and diseased hearts surgically removed for heart transplantation. Eur Heart J 10:100–102PubMedGoogle Scholar
  14. 14.
    Rustico MA, Benettoni A, Fontaliran F et al (2001) Prenatal echocardiographic appearance of arrhythmogenic right ventricle dysplasia: A case report. Fetal Diagn Ther 16:433–436PubMedCrossRefGoogle Scholar
  15. 15.
    Uhl HS (1952) A previously undescribed congenital malformation of the heart: Almost total absence of the myocardium of the right ventricle. Bull Johns Hopkins Hosp 91:197–209PubMedGoogle Scholar
  16. 16.
    Rampazzo A, Nava A, Malacrida S et al (2002) Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 71:1200–1206PubMedCrossRefGoogle Scholar
  17. 17.
    Norman M, Simpson M, Mogensen J et al (2005) Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation 112:636–642PubMedCrossRefGoogle Scholar
  18. 18.
    Bauce B, Basso C, Rampazzo A et al (2005) Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. Eur Heart J 26:1666–1675PubMedCrossRefGoogle Scholar
  19. 19.
    Gerull B, Heuser A, Wichter T et al (2004) Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 36:1162–1164PubMedCrossRefGoogle Scholar
  20. 20.
    Syrris P, Ward D, Asimaki A et al (2006) Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. Circulation 113:356–364PubMedCrossRefGoogle Scholar
  21. 21.
    Pilichou K, Nava A, Basso C et al (2006) Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation 113:1171–1179PubMedCrossRefGoogle Scholar
  22. 22.
    McKoy G, Protonotarios N, Crosby A et al (2000) Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with pal-moplantar keratoderma and woolly hair (Naxos disease). Lancet 355:2119–2124PubMedCrossRefGoogle Scholar
  23. 23.
    Norgett EE, Hatsell SJ, Carvajal-Huerta L et al (2000) Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 9:2761–2766PubMedCrossRefGoogle Scholar
  24. 24.
    Bauce B, Rampazzo A, Basso C et al (2002) Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: Early diagnosis of asymptomatic carriers. J Am Coll Cardiol 40:341–349PubMedCrossRefGoogle Scholar
  25. 25.
    Beffagna G, Occhi G, Nava A et al (2005) Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res 65:366–373PubMedCrossRefGoogle Scholar
  26. 26.
    Nava A, Thiene G, Canciani B et al (1992) Clinical profile of concealed form of arrhythmogenic right ventricular cardiomyopathy presenting with apparently idiopathic ventricular arrhythmias. Int J Cardiol 35:195–206PubMedCrossRefGoogle Scholar
  27. 27.
    Buja G, Nava A, Daliento L et al (1993) Right ventricular cardiomyopathy in identical and nonidentical young twins. Am Heart J 126:1187–1193PubMedCrossRefGoogle Scholar
  28. 28.
    McKenna WJ, Thiene G, Nava A et al (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 71:215–218PubMedCrossRefGoogle Scholar
  29. 29.
    Foale R, Nihoyannopoulos P, McKenna W et al (1986) Echocardiographic measurement of the normal adult right ventricle. Br Heart J 56:33–44PubMedCrossRefGoogle Scholar
  30. 30.
    Robertson JH, Bardy GH, German LD et al (1985) Comparison of two-dimensional echocardiographic and angiographic findings in arrhythmogenic right ventricular dysplasia. Am J Cardiol 55:1506–1508PubMedCrossRefGoogle Scholar
  31. 31.
    Blomstrom-Lundqvist C, Beckman-Suurkula M, Wallentin I et al (1988) Ventricular dimensions and wall motion assessed by echocardiography in patients with arrhythmogenic right ventricular dysplasia. Eur Heart J 9:1291–1302PubMedGoogle Scholar
  32. 32.
    Drobinski G, Verdiere C, Fontaine GH et al (1985) Angiocardiographic diagnosis in right ventricular dysplasia. Arch Mal Coeur Vaiss 78:544–551PubMedGoogle Scholar
  33. 33.
    Daubert C, Descaves C, Foulgoc JL et al (1988) Critical analysis of cineangiographic criteria for diagnosis of arrhythmogenic right ventricular dysplasia. Am Heart J 115:448–459PubMedCrossRefGoogle Scholar
  34. 34.
    Corrado D, Basso C, Thiene G et al (1997) Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: A multi-center study. J Am Coll Cardiol 30:1512–1520PubMedCrossRefGoogle Scholar
  35. 35.
    d’Amati G, Leone O, di Gioia CR et al (2001) Arrhythmogenic right ventricular cardiomyopathy: Clinicopathologic correlation based on a revised definition of pathologic patterns. Hum Pathol 32:1078–1086PubMedCrossRefGoogle Scholar
  36. 36.
    Lindstrom L, Nylander E, Larsson H et al (2005) Left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy — A scintigraphic and echocardiographic study. Clin Physiol Funct Imaging 25:171–177PubMedCrossRefGoogle Scholar
  37. 37.
    Pinamonti B, Salvi A, Silvestri F et al (1989) Left ventricular involvement in right ventricular cardiomyopathy. Eur Heart J 10:20–21PubMedGoogle Scholar
  38. 38.
    Angelini A, Thiene G, Boffa GM et al (1993) Endomyocardial biopsy in right ventricular cardiomyopathy. Int J Cardiol 40:273–282PubMedCrossRefGoogle Scholar
  39. 39.
    Fontaine G, Umemura J, Di Donna P et al (1993) Duration of QRS complexes in arrhythmogenic right ventricular dysplasia. A new non-invasive diagnostic marker. Ann Cardiol Angeiol (Paris) 42:399–405Google Scholar
  40. 40.
    Peters S, Trummel M (2003) Diagnosis of arrhythmogenic right ventricular dysplasia-cardiomyopathy: Value of standard ECG revisited. Ann Noninvasive Electrocardiol 8:238–245PubMedCrossRefGoogle Scholar
  41. 41.
    Pinamonti B, Sinagra G, Salvi A et al (1992) Left ventricular involvement in right ventricular dysplasia. Am Heart J 123:711–724PubMedCrossRefGoogle Scholar
  42. 42.
    Nava A, Bauce B, Basso C et al (2000) Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 36:2226–2233PubMedCrossRefGoogle Scholar
  43. 43.
    Dalal D, Nasir K, Bomma C et al (2005) Arrhythmogenic right ventricular dysplasia: A United States experience. Circulation 112:3823–3832PubMedCrossRefGoogle Scholar
  44. 44.
    Fontaine G, Fontaliran F, Hebert JL et al (1999) Arrhythmogenic right ventricular dysplasia. Annu Rev Med 50:17–35PubMedCrossRefGoogle Scholar
  45. 45.
    Turrini P, Corrado D, Basso C et al (2001) Dispersion of ventricular depolarization-repolarization: A noninvasive marker for risk stratification in arrhythmogenic right ventricular cardiomyopathy. Circulation 103:3075–3080PubMedGoogle Scholar
  46. 46.
    Breithardt G, Borggrefe M, Karbenn U (1990) Late potentials as predictors of risk after thrombolytic treatment? Br Heart J 64:174–176PubMedCrossRefGoogle Scholar
  47. 47.
    Breithardt G, Borggrefe M, Martinez-Rubio A et al (1990) Identification of patients at risk of ventricular tachyarrhythmias after myocardial infarction. Cardiologia 35:19–22PubMedGoogle Scholar
  48. 48.
    Blomstrom-Lundqvist C, Hirsch I, Olsson SB et al (1988) Quantitative analysis of the signal-averaged QRS in patients with arrhythmogenic right ventricular dysplasia. Eur Heart J 9:301–312PubMedGoogle Scholar
  49. 49.
    Leclercq JF, Coumel P (1993) Late potentials in arrhythmogenic right ventricular dysplasia. Prevalence, diagnostic and prognostic values. Eur Heart J 14:80–83PubMedGoogle Scholar
  50. 50.
    Oselladore L, Nava A, Buja G et al (1995) Signal-averaged electrocardiography in familial form of arrhythmogenic right ventricular cardiomyopathy. Am J Cardiol 75:1038–1041PubMedCrossRefGoogle Scholar
  51. 51.
    Turrini P, Angelini A, Thiene G et al (1999) Late potentials and ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy. Am J Cardiol 83:1214–1219PubMedCrossRefGoogle Scholar
  52. 52.
    Gaita F, Giustetto C, Di Donna P et al (2001) Long-term follow-up of right ventricular monomorphic extrasystoles. J Am Coll Cardiol 38:364–370PubMedCrossRefGoogle Scholar
  53. 53.
    Nava A, Thiene G, Canciani B et al (1988) Familial occurrence of right ventricular dysplasia: A study involving nine families. J Am Coll Cardiol 12:1222–1228PubMedCrossRefGoogle Scholar
  54. 54.
    McKenna WJ, Spirito P, Desnos M et al (1997) Experience from clinical genetics in hypertrophic cardiomyopathy: Proposal for new diagnostic criteria in adult members of affected families. Heart 77:130–132PubMedGoogle Scholar
  55. 55.
    Baig MK, Goldman JH, Caforio AL et al (1998) Familial dilated cardiomyopathy: Cardiac abnormalities are common in asymptomatic relatives and may represent early disease. J Am Coll Cardiol 31:195–201PubMedCrossRefGoogle Scholar
  56. 56.
    Hamid MS, Norman M, Quraishi A et al (2002) Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol 40:1445–1450PubMedCrossRefGoogle Scholar
  57. 57.
    Corrado D, Basso C, Thiene G (2000) Arrhythmogenic right ventricular cardiomyopathy: Diagnosis, prognosis, and treatment. Heart 83:588–595PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Italia 2007

Authors and Affiliations

  • Deirdre Ward
    • 1
  • Petros Syrris
    • 1
  • Srijita Sen-Chowdhry
    • 1
  • William J. McKenna
    • 1
  1. 1.Department of MedicineUniversity College London and University College London Hospitals TrustLondonUK

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