--- abstract: "Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is characterized by the patchy replacement of myocardium by fatty or fibrofatty tissue. These changes lead to structural abnormalities including right ventricular enlargement and wall motion abnormalities that can be detected by echocardiography, angiography, and cine MRI. ARVC/D is a genetically heterogeneous disorder, since it has been linked to several chromosomal loci. Myocarditis may also be a contributing etiological factor. Patients are typically diagnosed during adolescence or young adulthood. Presenting symptoms are generally related to ventricular arrhythmias. Concern for the risk of sudden cardiac death may lead to the implantation of an intracardiac defibrillator. An ongoing multicenter international registry should further our understanding of this disease.\n" altloc: - http://www.ipej.org/0303/indik.htm chapter: ~ commentary: ~ commref: ~ confdates: ~ conference: ~ confloc: ~ contact_email: ~ creators_id: [] creators_name: - family: Indik given: Julia H. honourific: '' lineage: '' - family: Marcus given: Frank I. honourific: '' lineage: '' date: 2003-07 date_type: published datestamp: 2005-04-24 department: ~ dir: disk0/00/00/42/79 edit_lock_since: ~ edit_lock_until: ~ edit_lock_user: ~ editors_id: [] editors_name: - family: Singh given: Balbir honourific: '' lineage: '' - family: Lokhandwala given: Yash honourific: '' lineage: '' - family: Francis given: Johnson honourific: '' lineage: '' - family: Gupta given: Anup honourific: '' lineage: '' eprint_status: archive eprintid: 4279 fileinfo: /style/images/fileicons/text_html.png;/4279/1/indik.htm full_text_status: public importid: ~ institution: ~ isbn: ~ ispublished: pub issn: ~ item_issues_comment: [] item_issues_count: 0 item_issues_description: [] item_issues_id: [] item_issues_reported_by: [] item_issues_resolved_by: [] item_issues_status: [] item_issues_timestamp: [] item_issues_type: [] keywords: Arrhythmogenic right ventricular cardiomyopathy lastmod: 2011-03-11 08:55:59 latitude: ~ longitude: ~ metadata_visibility: show note: ~ number: 3 pagerange: 148-156 pubdom: TRUE publication: Indian Pacing and Electrophysiology Journal publisher: Indian Pacing and Electrophysiology Group refereed: TRUE referencetext: |- 1. 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. American Journal of Human Genetics. 2002;71:1200-6 2. McKoy G. Protonotarios N. Crosby A. Tsatsopoulou A. Anastasakis A. Coonar A. Norman M. Baboonian C. Jeffery S. McKenna WJ. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000; 355:2119-24. 3. Tiso N, Stephan DA, Nava A et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventircular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001; 10: 189-194. 4. Corrado D, Thiene G, Nava A, Rossi L, Pennelli N. Sudden death in young competitive athletes: clinicopathologic correlations in 22 cases. Am J. Medicine 1990; 89: 588-596. 5. Marcus FI. Arrhythmogenic right ventricular dysplasia. Cardiac Electrophys Rev 1999; 3:205-206. 6. Marcus FI, Fontaine GH, Guiraudon G, Frank R, Laurenceau JL, Malergue C, Grosgogeat Y. Right ventricular dysplasia: a report of 24 adult cases. Circ 1982; 65: 384-398. 7. Thiene G, Basso C, Danieli G, Rampazzo A, Corrado D, Nava A. Arrhythmogenic right ventricular cardiomyopathy. A still underrecognized clinic entity. Trends Cardiovasc Med 1997; 7:84-90. 8. Gerlis LM, Schmidt-Ott SC, Ho Sy, Anderson RH. Dysplastic conditions of the right ventircular myocardium: Uhl’s anomaly versus arrhythmogenic right ventircualr dysplasia. Br Heart J 1993; 69:142-150. 9. Fontaine G, Fontaliran F, Frank R. Arrhythmogenic right ventricular cardiomyopathies. Clinical forms and main differential diagnoses. Circ 1998; 97:1532-1535. 10. Danieli GA and Rampazzo A. Genetics of arrhythmogenic right ventricular cardiomyopathy. Curr Opin in Card 2002; 17:218-221. 11. Kavantzas NG, Lazaris AC, Agapitos EV et al. Histological assessment of apoptotic cell death in cardiomyopathies. Pathology 2000; 32: 176-180. 12. Runge MS, Stouffer GA, Sheahan RG et al. Morphological patterns of death by myocytes in arrhythmogenic right ventricular dysplasia. Am J Med Sci 2000; 320:310-319. 13. Nagata M, Hiroe M, Ishiyama S, et al. Apoptotic cell death in arrhythmogenic right ventircular cardiomoypathpy: a comparative study with idiopathic susptained ventricular tachycardia. Jpn Heart J 2000; 41: 733-741. 14. Villanova C. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: echocardiographic features and criteria. Thesis Universita Degli Studi Di Padova Padua Italy December 1998. 15. Bluemke D, Krupinski EA, Ovitt T et al. MR Imaging of arrhythmogenic right ventircular cardiomyopathy: morphologic findings and interobserver reliability. Cardiology 2003 (In press). 16. Frank R, Fontaine G, Vedel J et al: Electrocardiologie de quatre cas de dysplasia ventriculaire droite arythmogene. Arch Mal Coeur Vaiss 1978; 71: 963-972. 17. Nava A, Canciani B, Buja GF et al. Electrovectorcardiographic study of negative T waves on precordial leads in arrhythmogenic right ventricular dysplasia: relationship with right ventricular volumes. J Electrocardiol 21: 239-245. 18. Fontaine G., Fontaliran F, Hebert JL et al. Arrhythmogenic right ventircular dysplasia. Annu Rev. Med 1999; 50:17-35. 19. Nasir K, Rutberg J, Tandri H et al. Utility of SAECG in arrhythmogenic right ventricle dysplasia. A.N.E. 2003; 8:112-120. 20. 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. 21. Nakazato Y. Nakata Y. Tokano T. Ohno Y. Hisaoka T. Sumiyoshi M. Ogura S. Yamaguchi H. Kawai S. Okada R. et al. A case of arrhythmogenic right ventricular dysplasia with atrial flutter. Japanese Heart Journal. 1994; 35:689-94. 22. Caglar N, Pamir G, Kural T, Candan I, Kumbasar A, Sonel A. Right ventricular cardiomypathy similar to Uhl’s anomaly with atrial flutter and complete AV block. International J Cardiol 1993; 38: 199-201. 23. Lui CY. Marcus FI. Sobonya RE. Arrhythmogenic right ventricular dysplasia masquerading as peripartum cardiomyopathy with atrial flutter, advanced atrioventricular block and embolic stroke. Cardiology. 2002; 97:49-50. 24. Nava A, Bauce B, Basso C et al. Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventircular cardiomyopathy. J. Am Coll Card 2000; 36:2226-33. 25. Hamid MS, Norman M, Quaraishi A et al. Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J. Am Coll Card 2002; 40:1445-50. 26. Bauce B, Nava A, Rampazzo A, Daliento L, Muriago M, Basso C, Thiene G, Danieli A. Familial effort polymorphic ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy map to chromosome 1q42-43. Am J Cardiol 2000;85:573-579. 27. Rampazzo A, Nava A, Danieli GA, Buja G, Daliento L, Fasoli G, Scognamiglio R, Corrado D, Thiene G. The gene for arrhytmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Hum Mol Genet 1994; 3:959-962. 28. Rampazzo a, Nava A, Miorin M, Fonderico P, Pope B, Tiso N, Livolsi B, Zimbello R, Thiene G, Danieli GA. ARVD4 a new locus for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 2 long arm. Genomics 1997; 45:259-263. 29. Severini GM, Krajinovic M, Pinamonti B, Sinagra G, Fioretti P, Brunazzi MC, Falaschi A, Camerini G, Giacca M, Mestroni L. A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14. Genomics 1996; 31:193-200. 30. Ahmad F, Li D, Karibe A, Gonzales O, Tapscott T, Hill R, Weibaecher D, Blackie P, Furey M, Gardner M, Bachinski L, Roberts R. Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. Circ 1998; 98:2791-2795. 31. Coonar AS, Protonotarios N, Tsatsopoulou A, Needham EW, Houlston RS, Cliff S, Otter MI, Murday VA, Mattu RK, McKenna WJ. Gene for arrythmogenic right ventricular cardiomyopathy with diffuse non epidermolytic palmoplantar keratoderma and wooly hair (Naxos disease) maps to 17q21. Circ 1998;97:2049-2058. 32. Bauce B, Nava A, Rampazzo A, Daliento L, Muriago M, Basso C, Thiene G, Danieli A. Familial effort polymorphic ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy map to chromosome 1q42-43. Am J Cardiol 2000;85:573-579. 33. Laitinen PJ Brown KM Piipo Ket al. Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 2001; 103: 485-90. 34.. Priori SG, Napolitano C, Tiso N et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic vetnricular tachycardia. Cicrculation 2001; 103:196-200. 35. Norgett EE, Hatsell SJ, Carvajal-Guerta L et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, wooly hair and keratoderma. Hum Mol Genetics 2000; 9: 2761-2766. 36. Grumbach IM, Heim A, Vonhof S, et al. Coxsackievirus genome in myocardium of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Cardiology 1998; 89: 241-5. 37. Bowles NE, Ni J, Marcus F, Towbin JA. The detection of cardiotropic viruses in the myocardium of patients with arrhythmogenic right ventircular dysplasia/cardiomyopathy. J Am Coll Card 2002; 39:892-5 38. Fontaine G, Fontaliran F, Rosas Andrade F, Velasquez E, Tonet J, Jouven X, Fujioka Y, Frank R. The arrhythmogenic right ventricle. Dysplasia versus cardiomyopathy. Heart Vessels 1995; 10:227-235. 39. Thiene G, Corrado D, Nava A, et al. Right ventricular cardiomypathy: is there evidence of an inflammatory aetiology? Eur Heart J 1991; 12:22-25. 40. 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. Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomypathy/dysplasia: A multicenter study. J. Am Coll Cardiol 1997; 30: 1512-1520. 41. McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G, Camerini F. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Br Heart J 1994; 71:215-18. 42. Nava A, Bauce B, Basso C et al. Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventircular cardiomyopathy. J. Am Coll Card 2000; 36:2226-33. 43. Hamid MS, Norman M, Quaraishi A et al. Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J. Am Coll Card 2002; 40:1445-50. 44. Wichter T, Hindricks G, Lerch H et al. Regional myocardial sympathetic dysinnervation in arrhythmogenic right ventricular cardiomyopathy: an analysis using 123I metaiodobenzylguanidine scintigraphy. Circulation 1994; 89: 667-83. 45. Marcus FI, Fontaine G. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: a review. Pacing Clin Electrophysiol 1995; 18:1298-314 46. Guiraudon GM, Klein GJ, Gulamhusein SS, Painvin GA, Del Camp C, Gonzales JC, Ko PT. Total disconnection of the right ventricular free wall: surgical treatment of right ventricular tachycardia associated with right ventricular dysplasia. Circ 1983; 67: 463-470. 47. Doig JC, Nimkhedkar K, Bourke JP, McComb JM, Hilton CJ, Furniss SS, Campbell RWF. Acute and chronic hemodynamic impact of total right ventricular disarticulation. Pace 1991; 14:1971-1975. 48. Turrini P, Corrado D, Basso C et al. Noninvasive risk stratification in arrhythmogenic right ventricular cardiomyopathy. A.N.E. 2003; 8:161-169. 49. Dicks E, Hodgkinson K, Conners S. Initial clinical manifestations of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Gen 2000; 67: 114a. 50. Scognamiglio R, Rahimtooia S, Thiene G, Nava A, Gasoli G, Daliento L, Buja G, Nistri S, Palisi M, Marin M, Dalla-Volta S. Concealed phase of familiar arrhythmogenic right ventricular cardiomyopathy (ARVD). Early recognition and long-term follow-up. J. Am. Coll Cardiol 1997; 29:194A. 51. Corrado D. Fontaine G. Marcus FI. McKenna WJ. Nava A. Thiene G. Wichter T. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. European Society of Cardiology and the Scientific Council on Cardiomyopathies of the World Heart Federation. Journal of Cardiovascular Electrophysiology. 2000; 11:827-32. 52. Gear, K and Marcus F. Arrhythmogenic right ventirculardysplasia/cardiomyopathy. Circulation 2003; 107:e31-33. relation_type: [] relation_uri: [] reportno: ~ rev_number: 8 series: ~ source: ~ status_changed: 2007-09-12 16:57:58 subjects: - ipej succeeds: ~ suggestions: ~ sword_depositor: ~ sword_slug: ~ thesistype: ~ title: Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia type: journalp userid: 4424 volume: 3