Skip to main content
NCBI home page
Clinical Cardiology logoLink to Clinical Cardiology
. 2009 Feb 3;20(4):333–336. doi: 10.1002/clc.4960200406

Arrhythmogenic right ventricular cardiomyopathy: a survey of the investigations at the university of padua

Cristina Basso 1, Gaetano Thiene 1,✉, Andrea Nava 2, Sergio Dalla Volta 2
PMCID: PMC6656152  PMID: 9098590

Abstract

The purpose of this paper is to review the history of the clinico‐pathologic investigations performed at the University of Padua on an old morbid entity (“parchment heart”), which, in the 1960s, led to the clinical description of the disease, in the 1980s to the revival of the scientific interest, and in the mid 1990s to the understanding of the genetic background. All the steps of the progressive knowledge are reviewed: necropsy of young people who died suddenly, in vivo diagnosis by ECG, echocardiography, angiocardiography, endomyocardial biopsy, nuclear magnetic resonance, and diagnostic criteria. Familial occurrence with autosomic dominant transmission and various penetrance was documented. Gene defects were recently mapped both to chromosome 14q23–q24 and 1q42–q43, thus providing evidence for genetic heterogeneity. The pathologic substrates of arrhythmogenic right ventricular cardiomyopathy pointed to an acquired progressive myocardial atrophy with fibro‐fatty replacement of dying myocytes. Nowadays the disease is definitively regarded as a primary myocardial disorder and it has been included in the revised WHO classification of cardiomyopathies.

Keywords: arrhythmias, arrhythmogenic right ventricular cardiomyopathy, cardiomyopathies, right ventricular dysplasia, sudden death, ventricular arrhythmias

Full Text

The Full Text of this article is available as a PDF (631.8 KB).

References

  • 1. Dalla Volta S, Battaglia G, Zerbini E: Auricularization of right ventricular pressure curve. Am Heart J 1961; 61: 25–33. [DOI] [PubMed] [Google Scholar]
  • 2. Dalla Volta S, Fameli O, Maschio G: Le syndrome clinique et hémodynamique de l'auricularisation du ventricule droit. Arch Mal Coeur 1965; 58: 1129–1143. [PubMed] [Google Scholar]
  • 3. Marcus FI, Fontaine G, Guiraudon G, Frank R, Laurenceau JL, Malergue S, Grosgogeat Y: Right ventricular dysplasia. A report of 24 adult cases. Circulation 1982; 65: 384–398. [DOI] [PubMed] [Google Scholar]
  • 4. Nava A, Scognamiglio R, Thiene G, Canciani B, Daliento L, Buja OF, Stritoni P, Fasoli G, Dalla Volta S: A polymorphic form of familial arrhythmogenic right ventricular dysplasia. Am J Cardiol 1987; 59: 1405–1409. [DOI] [PubMed] [Google Scholar]
  • 5. 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] [PubMed] [Google Scholar]
  • 6. Maron BJ: Right ventricular cardiomyopathy. Another cause of sudden death in the young. N Engl J Med 1988; 318: 178–179. [DOI] [PubMed] [Google Scholar]
  • 7. Corrado D, Thiene G, Nava A, Rossi L, Pennelli N: Sudden death in young competitive athletes: Clinicopathologic correlation in 22 cases. Am J Med 1990; 89: 588–596. [DOI] [PubMed] [Google Scholar]
  • 8. Martini B, Nava A, Thiene G, Buja G, 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. [DOI] [PubMed] [Google Scholar]
  • 9. Nava A, Canciani B, Buja GF, Martini B, Daliento L, Scognamiglio R, Thiene G: Electrovectorcardiographic study of negative T waves on precordial leads in arrhythmogenic right ventricular dysplasia: Relationship with right ventricular volumes. J Electrocardiol 1988; 21: 239–245. [DOI] [PubMed] [Google Scholar]
  • 10. Daliento L, Rizzoli G, Thiene G, Nava A, Rinuncini M, Chioin R, Dalla Volta S: Diagnostic accuracy of right ventriculography in arrhythmogenic right ventricular cardiomyopathy. Am J Cardiol 1990; 66: 741–745. [DOI] [PubMed] [Google Scholar]
  • 11. Scognamiglio R, Fasoli G, Nava A, Miraglia G, Delia Valentina P, Thiene G, Dalla Volta S: Relevance of subtle echocardiographic findings in early diagnosis of the concealed form of right ventricular dysplasia. Eur Heart J 1989; 10 (suppl D): 27–28. [DOI] [PubMed] [Google Scholar]
  • 12. Angelini A, Thiene G, Boffa GM, Calliari I, Daliento L, Valente M, Chioin R, Nava A, Dalla Volta S: Endomyocardial biopsy in right ventricular cardiomyopathy. Int J Cardiol 1993; 40: 273–282. [DOI] [PubMed] [Google Scholar]
  • 13. Angelini A, Basso C, Nava A, Thiene G: Endomyocardial biopsy in arrhythmogenic right ventricular cardiomyopathy. Am Heart J 1996; 132: 203–206. [DOI] [PubMed] [Google Scholar]
  • 14. Nava A, Thiene G, Canciani B, Martini B, Daliento L, Buja GF, Fasoli G: Clinical profile of concealed form of arrhythmogenic right ventricular cardiomyopathy presenting with apparently idiopathic ventricular arrhythmias. Int J Cardiol 1992; 35: 195–206. [DOI] [PubMed] [Google Scholar]
  • 15. Menghetti L, Basso C, Nava A, Angelini A, Thiene G: Spin‐echo nuclear magnetic resonance for tissue characterisation in arrhythmogenic right ventricular cardiomyopathy. Heart 1996; 76: 467–470. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 16. Oselladore L, Nava A, Buja G, Turrini P, Daliento L, Livolsi B, Thiene G: Signal‐averaged electrocardiography in familial form of arrhythmogenic right ventricular cardiomyopathy. Am J Cardiol 1995; 75: 1038–1041. [DOI] [PubMed] [Google Scholar]
  • 17. Nava A, Thiene G, Canciani B, Scognamiglio R, Daliento L, Buja GF, Martini B, Stritoni P, Fasoli G: Familial occurrence of right ventricular dysplasia: A study involving nine families. J Am Coll Cardiol 1988; 12: 1222–1228. [DOI] [PubMed] [Google Scholar]
  • 18. Buja GF, Nava A, Daliento L, Scognamiglio R, Miorelli M, Canciani B, Alampi G, Thiene G: Right ventricular cardiomyopathy in identical and non identical young twins. Am Heart J 1993; 126: 1187–1193. [DOI] [PubMed] [Google Scholar]
  • 19. Rampazzo A, Nava A, Danieli GA, Buja GF, Daliento L, Fasoli G, Scognamiglio R, Corrado D, Thiene G: The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23–q24. Hum Mol Genet 1994; 3: 959–962. [DOI] [PubMed] [Google Scholar]
  • 20. Rampazzo A, Nava A, Eme P, Eberhard M, Vian E, Slomp P, Tiso N, Thiene G, Danieli GA: A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome Iq42–q43. Hum Mol Genet 1995; 4: 2151–2154. [DOI] [PubMed] [Google Scholar]
  • 21. Thiene G, Nava A, Angelini A, Daliento L, Scognamiglio R, Corrado D: Anatomoclinical aspects of arrhythmogenic right ventricular cardiomyopathy In Advances in Cardiomyopathies (Eds. Baroldi G, Camerini F, Goodwin JF.), p. 397–408. Berlin: Springer Verlag, 1990. [Google Scholar]
  • 22. Thiene G, Nava A: What is arrhythmogenic right ventricular cardiomyopathy? Newsletter Scientific Council on Cardiomyopathies 1992; 5: 1–3. [Google Scholar]
  • 23. Thiene G, Basso C, Danieli GA, Rampazzo A, Corrado D, Nava A: Arrhythmogenic right ventricular cardiomyopathy: A still unrecognized clinical entity. Trends Cardiovasc Med (in press). [DOI] [PubMed]
  • 24. Daliento L, Turrini P, Nava A, Rizzoli G, Angelini A, Buja GF, Scognamiglio R, Thiene G: Arrhythmogenic right ventricular cardiomyopathy in young versus adult patients: Similarities and differences. J Am Coll Cardiol 1995; 25: 655–664. [DOI] [PubMed] [Google Scholar]
  • 25. Richardson P, McKenna WJ, Bristow M, Maisch B, Mautner B, O'Connell J, Olsen O, Thiene G, Goodwin J, Gyarfas I, Martin I, Nordet P: Report of the 1995 WHO/ISFC Task Force on the definition and classification of cardiomyopathies. Circulation 1996; 93: 841–842. [DOI] [PubMed] [Google Scholar]
  • 26. Basso C, Thiene G, Valente M, Angelini A, Corrado D, Nava A: Arrhythmogenic right ventricular cardiomyopathy: Dysplasia, dystrophy or myocarditis? Circulation 1996; 94: 983–991. [DOI] [PubMed] [Google Scholar]
  • 27. Valente M, Calabrese F, Baliello E, Basso C, Angelini A, Thiene G: Programmed myocardial cell death (apoptosis) in cardiomyopathies (abstr). J Am Coll Cardiol 1996; 27: 56A. [Google Scholar]
  • 28. Thiene G, Corrado D, Nava A, Rossi L, Poletti A, Boffa GM, Daliento L, Pennelli N: Right ventricular cardiomyopathy: Is there evidence of an inflammatory aetiology? Eur Heart J 1991; 12: 22–25. [DOI] [PubMed] [Google Scholar]
  • 29. McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomström‐Lundqvist C, Fontaine G, Camerini F: Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Br Heart J 1994; 71: 215–218. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 30. Wilson RM: The Beloved Physician: Sir James Mackenzie, p. 177 New York: Macmillan, 1926. [Google Scholar]

Articles from Clinical Cardiology are provided here courtesy of Wiley

RESOURCES