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Abstract

An abrupt electrical turmoil precipitating ventricular fibrillation and cardiac arrest is a frequent complication of cardiomyopathies, whether overt or concealed, since they present an arrhythmogenic substrate.

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References

  1. 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. Report of the 1995 WHO/ISFC Task Force on the definition and classification of cardiomyopathies. Circulation. 1996;93:841–2.

    Article  CAS  PubMed  Google Scholar 

  2. Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, Moss AJ, Seidman CE, Young JB. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113:1807–16.

    Article  PubMed  Google Scholar 

  3. Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Kühl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic P, Tavazzi L, Keren A. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2008;29:270–6.

    Article  PubMed  Google Scholar 

  4. Maron BJ, Shirani J, Poliac LC, Mathenge R, Roberts WC, Mueller FO. Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles. JAMA. 1996;276:199–204.

    Google Scholar 

  5. Maron ΒJ, Roberts WJ, Epstein SE. Sudden death in hypertrophic cardiomyopathy: a profile of 78 patients. Circulation. 1982;65:1388–94.

    Article  CAS  PubMed  Google Scholar 

  6. Maron BJ, Maron MS. Hypertrophic cardiomyopathy. Lancet. 2013;381:242–55.

    Article  PubMed  Google Scholar 

  7. Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation. 2011;124:2761–96.

    Article  PubMed  Google Scholar 

  8. Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, Hagege AA, Lafont A, Limongelli G, Mahrholdt H, McKenna WJ, Mogensen J, Nihoyannopoulos P, Nistri S, Pieper PG, Pieske B, Rapezzi C, Rutten FH, Tillmanns C, Watkins H. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014;35:2733–79.

    Article  PubMed  Google Scholar 

  9. Teare D. Asymmetrical hypertrophy of the heart in young adults. Br Heart J. 1958;20:1–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Maron ΒJ, Roberts WC. Quantitative analysis of cardiac muscle cell disorganization in the ventricular septum of patients with hypertrophic cardiomyopathy. Circulation. 1979;59:689–706.

    Article  CAS  PubMed  Google Scholar 

  11. Maron ΒJ, Anan TJ, Roberts WC. Quantitative analysis of the distribution of cardiac muscle cell disorganization in the left ventricular wall of patients with hypertrophic cardiomyopathy. Circulation. 1981;63:882–94.

    Article  CAS  PubMed  Google Scholar 

  12. Maron ΒJ, Epstein SE, Roberts WC. Hypertrophic cardiomyopathy and transmural myocardial infarction without significant atherosclerosis of the extramural coronary arteries. Am J Cardiol. 1979;43:1086–102.

    Article  CAS  PubMed  Google Scholar 

  13. Maron BJ, Wolfson JK, Epstein SE, Roberts WC. Intramural (“small vessel”) coronary artery disease in hypertrophic cardiomyopathy. J Am Coll Cardiol. 1986;8:545–57.

    Article  CAS  PubMed  Google Scholar 

  14. Varnava AM, Elliott PM, Sharma S, McKenna WJ, Davies MJ. Hypertrophic cardiomyopathy: the interrelation of disarray, fibrosis, and small vessel disease. Heart. 2000;84:476–82.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Basso C, Thiene G, Corrado D, Buja G, Melacini P, Nava A. Hypertrophic cardiomyopathy and sudden death in the young: pathologic evidence of myocardial ischemia. Hum Pathol. 2000;31:988–98.

    Article  CAS  PubMed  Google Scholar 

  16. Basso C, Thiene G, Mackey-Bojack S, Frigo AC, Corrado D, Maron BJ. Myocardial bridging, a frequent component of the hypertrophic cardiomyopathy phenotype, lacks systematic association with sudden cardiac death. Eur Heart J. 2009;30:1627–34.

    Google Scholar 

  17. Melacini P, Basso C, Angelini A, Calore C, Bobbo F, Tokajuk B, Bellini N, Smaniotto G, Zucchetto M, Iliceto S, Thiene G, Maron BJ. Clinicopathological profiles of progressive heart failure in hypertrophic cardiomyopathy. Eur Heart J. 2010;31:2111–23.

    Article  PubMed  PubMed Central  Google Scholar 

  18. Chan RH, Maron BJ, Olivotto I, Pencina MJ, Assenza GE, Haas T, Lesser JR, Gruner C, Crean AM, Rakowski H, Udelson JE, Rowin E, Lombardi M, Cecchi F, Tomberli B, Spirito P, Formisano F, Biagini E, Rapezzi C, De Cecco CN, Autore C, Cook EF, Hong SN, Gibson CM, Manning WJ, Appelbaum E, Maron MS. Prognostic value of quantitative contrast-enhanced cardiovascular magnetic resonance for the evaluation of sudden death risk in patients with hypertrophic cardiomyopathy. Circulation. 2014;130:484–95.

    Article  PubMed  Google Scholar 

  19. Basso C, Burke M, Fornes P, Gallagher PJ, de Gouveia RH, Sheppard M, Thiene G, van der Wal A. Guidelines for autopsy investigation of sudden cardiac death. Virchows Arch. 2008;452:11–8.

    Article  PubMed  Google Scholar 

  20. de Noronha SV, Behr ER, Papadakis M, Ohta-Ogo K, Banya W, Wells J, Cox S, Cox A, Sharma S, Sheppard MN. The importance of specialist cardiac histopathological examination in the investigation of young sudden cardiac deaths. Europace. 2014;16:899–907.

    Article  PubMed  Google Scholar 

  21. Papadakis M, Raju H, Behr ER, De Noronha SV, Spath N, Kouloubinis A, Sheppard MN, Sharma S. Sudden cardiac death with autopsy findings of uncertain significance: potential for erroneous interpretation. Circ Arrhythm Electrophysiol. 2013;6:588–96.

    Article  CAS  PubMed  Google Scholar 

  22. Thiene G, Nava A, Corrado D, Rossi L, Pennelli N. Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med. 1988;318:129–33.

    Article  CAS  PubMed  Google Scholar 

  23. Corrado D, Basso C, Pavei A, Michieli P, Schiavon M, Thiene G. Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program. JAMA. 2006;296:1593–601.

    Article  CAS  PubMed  Google Scholar 

  24. Basso C, Corrado D, Marcus FI, Nava A, Thiene G. Arrhythmogenic right ventricular cardiomyopathy. Lancet. 2009;373:1289–300.

    Article  PubMed  Google Scholar 

  25. Basso C, Bauce B, Corrado D, Thiene G. Pathophysiology of arrhythmogenic cardiomyopathy. Nat Rev Cardiol. 2011;9:223–33.

    Article  PubMed  Google Scholar 

  26. Thiene G. The research venture in arrhythmogenic right ventricular cardiomyopathy: a paradigm of translational medicine. Eur Heart J. 2015;36:837–46.

    Article  PubMed  Google Scholar 

  27. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffrey S, McKenna WJ. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and wolly hair (Naxos disease). Lancet. 2000;355:2119–24.

    Article  CAS  PubMed  Google Scholar 

  28. Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2002;71:1200–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet. 2004;36:1162–4.

    Article  CAS  PubMed  Google Scholar 

  30. Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, Thiene G, Danieli GA, Rampazzo A. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation. 2006;113:1171–9.

    Article  CAS  PubMed  Google Scholar 

  31. Basso C, Thiene G, Corrado D, Angelini A, Nava A, Valente M. Arrhythmogenic right ventricular cardiomyopathy: dysplasia, dystrophy, or myocarditis? Circulation. 1996;94:983–91.

    Article  CAS  PubMed  Google Scholar 

  32. 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. The spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia. A Multicenter Study. J Am Coll Cardiol. 1997;30:1512–20.

    Article  CAS  PubMed  Google Scholar 

  33. Burke AP, Farb A, Tashko G, Virmani R. Arrhythmogenic right ventricular cardiomyopathy and fatty replacement of the right ventricular myocardium: are they different diseases? Circulation. 1998;97:1571–80.

    Article  CAS  PubMed  Google Scholar 

  34. Fornes P, Ratel S, Lecomte D. Pathology of arrhythmogenic right ventricular cardiomyopathy/dysplasia–an autopsy study of 20 forensic cases. J Forensic Sci. 1998;43:777–83.

    CAS  PubMed  Google Scholar 

  35. Suárez-Mier MP, Aguilera B, Mosquera RM, Sánchez-de-León MS. Pathology of sudden death during recreational sports in Spain. Forensic Sci Int. 2013;226:188–96.

    Article  PubMed  Google Scholar 

  36. Lobo F, Silver MD, Butany J, Heggtviet HA. Left ventricular involvement in right ventricular dysplasia/cardiomyopathy. Can J Cardiol. 1999;15:1239–47.

    CAS  PubMed  Google Scholar 

  37. Tavora F, Zhang M, Franco M, Oliveira JB, Li L, Fowler D, Zhao Z, Cresswell N, Burke A. Distribution of biventricular disease in arrhythmogenic cardiomyopathy: an autopsy study. Hum Pathol. 2012;43:592–6.

    Article  PubMed  Google Scholar 

  38. Basso C, Thiene G. Adipositas cordis, fatty infiltration of the right ventricle, and arrhythmogenic right ventricular cardiomyopathy. Just a matter of fat? Cardiovasc Pathol. 2005;14:37–41.

    Article  PubMed  Google Scholar 

  39. Marcus FI, Basso C, Gear K, Sorrell VL. Pitfalls in the diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia. Am J Cardiol. 2010;105:1036–9.

    Article  PubMed  PubMed Central  Google Scholar 

  40. Basso C, Ronco F, Marcus F, Abudureheman A, Rizzo S, Frigo AC, Bauce B, Maddalena F, Nava A, Corrado D, Grigoletto F, Thiene G. Quantitative assessment of endomyocardial biopsy in arrhythmogenic right ventricular cardiomyopathy/dysplasia: an in vitro validation of diagnostic criteria. Eur Heart J. 2008;29:2760–71.

    Article  PubMed  Google Scholar 

  41. 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;121:1533–41.

    Article  PubMed  PubMed Central  Google Scholar 

  42. Corrado D, Basso C, Leoni L, Tokajuk B, Bauce B, Frigo G, Tarantini G, Napodano M, Turrini P, Ramondo A, Daliento L, Nava A, Buja G, Iliceto S, Thiene G. Three-dimensional electroanatomic voltage mapping increases accuracy of diagnosing arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation. 2005;111:3042–50.

    Article  PubMed  Google Scholar 

  43. Marra MP, Leoni L, Bauce B, Corbetti F, Zorzi A, Migliore F, Silvano M, Rigato I, Tona F, Tarantini G, Cacciavillani L, Basso C, Buja G, Thiene G, Iliceto S, Corrado D. Imaging study of ventricular scar in arrhythmogenic right ventricular cardiomyopathy: comparison of 3D standard electroanatomical voltage mapping and contrast-enhanced cardiac magnetic resonance. Circ Arrhythm Electrophysiol. 2012;5:91–100.

    Article  PubMed  Google Scholar 

  44. Pilichou K, Remme CA, Basso C, Campian ME, Rizzo S, Barnett P, Scicluna BP, Bauce B, van den Hoff MJ, de Bakker JM, Tan HL, Valente M, Nava A, Wilde AA, Moorman AF, Thiene G, Bezzina CR. Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy. J Exp Med. 2009;206:1787–802.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  45. Valente M, Calabrese F, Angelini A, Basso C, Thiene G. In vivo evidence of apoptosis in arrhythmogenic right ventricular cardiomyopathy. Am J Pathol. 1998;152:479–84.

    CAS  PubMed  PubMed Central  Google Scholar 

  46. Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKenna WJ. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet. 2006;79:978–84.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  47. Beffagna G, De Bortoli M, Nava A, Salamon M, Lorenzon A, Zaccolo M, Mancuso L, Sigalotti L, Bauce B, Occhi G, Basso C, Lanfranchi G, Towbin JA, Thiene G, Danieli GA, Rampazzo A. Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro. BMC Med Genet. 2007;8:65.

    Article  PubMed  PubMed Central  Google Scholar 

  48. Basso C, Czarnowska E, Della Barbera M, Bauce B, Beffagna G, Wlodarska EK, Pilichou K, Ramondo A, Lorenzon A, Wozniek O, Corrado D, Daliento L, Danieli GA, Valente M, Nava A, Thiene G, Rampazzo A. Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies. Eur Heart J. 2006;27:1847–54.

    Article  PubMed  Google Scholar 

  49. 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;95:409–18.

    Google Scholar 

  50. Nava A, Bauce B, Basso C, Muriago M, Ramazzo A, Villanova C, Daliento L, Buja G, Corrado D, Danieli GA, Thiene G. Clinical profile and long term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2000;36:2226–33.

    Article  CAS  PubMed  Google Scholar 

  51. Basso C, Corrado D, Bauce B, Thiene G. Arrhythmogenic right ventricular cardiomyopathy. Circ Arrhythm Electrophysiol. 2012;5:1233–46.

    Article  PubMed  Google Scholar 

  52. 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.

    Google Scholar 

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Thiene, G., Corrado, D., Basso, C. (2016). Cardiomyopathies. In: Sudden Cardiac Death in the Young and Athletes. Springer, Milano. https://doi.org/10.1007/978-88-470-5776-0_4

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