Progress in Cardiovascular Diseases
Volume 51, Issue 1 , Pages 31-43 , July 2008

Arrhythmogenic Right Ventricular Dysplasia

  • Palaniappan Muthappan
    • ,
  • Hugh Calkins

      Affiliations

    • Corresponding Author InformationAddress reprint requests to Hugh Calkins, MD, The Johns Hopkins Hospital, 600 N. Wolfe Street, Carnegie 530, Baltimore, MD 21287.
    web address

References 

  1. Hulot JS, Jouven X, Empana JP, et al. Natural history and risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation. 2004;110:1879–1884
  2. 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
  3. Dalal D, Nasir K, Bomma C, et al. Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation. 2005;112:3823–3832
  4. McKenna WJ, Thiene G, Nava A, et al. 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. 1994;71:215–218
  5. 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
  6. Marcus FI. Prevalence of T-wave inversion beyond V(1) in young normal individuals and usefulness for the diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia. Am J Cardiol. 2005;95:1070–1071
  7. Nasir K, Rutberg J, Tandri H, et al. Utility of SAECG in arrhythmogenic right ventricle dysplasia. Ann Noninvasive Electrocardiol. 2003;8:112–120
  8. Nasir K, Bomma C, Khan FA, et al. Utility of a combined signal-averaged electrocardiogram and QT dispersion algorithm in identifying arrhythmogenic right ventricular dysplasia in patients with tachycardia of right ventricular origin. Am J Cardiol. 2003;92:105–109
  9. Nasir K, Tandri H, Rutberg J, et al. Filtered QRS duration on signal-averaged electrocardiography predicts inducibility of ventricular tachycardia in arrhythmogenic right ventricle dysplasia. Pacing Clin Electrophysiol. 2003;26:1955–1960
  10. Yoerger DM, Marcus F, Sherrill 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
  11. Prakasa KR, Dalal D, Wang J, et al. Feasibility and variability of three dimensional echocardiography in arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Cardiol. 2006;97:703–709
  12. Prakasa KR, Wang J, Tandri H, et al. Utility of tissue Doppler and strain echocardiography in arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Cardiol. 2007;100:507–512
  13. Tandri H, Calkins H, Nasir K, et al. Magnetic resonance imaging findings in patients meeting task force criteria for arrhythmogenic right ventricular dysplasia. J Cardiovasc Electrophysiol. 2003;14:476–482
  14. Tandri H, Friedrich MG, Calkins H, et al. MRI of arrhythmogenic right ventricular cardiomyopathy/dysplasia. J Cardiovasc Magn Reson. 2004;6:557–563
  15. Bluemke DA, Krupinski EA, Ovitt T, et al. MR Imaging of arrhythmogenic right ventricular cardiomyopathy: morphologic findings and interobserver reliability. Cardiology. 2003;99:153–162
  16. 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
  17. Tandri H, Bomma C, Calkins H, et al. Magnetic resonance and computed tomography imaging of arrhythmogenic right ventricular dysplasia. J Magn Reson Imaging. 2004;19:848–858
  18. Tandri H, Castillo E, Ferrari VA, et al. Magnetic resonance imaging of arrhythmogenic right ventricular dysplasia. Sensitivity, specificity, and observer variability of fat detection versus functional analysis of the right ventricle. J Am Coll Cardiol. 2006;48:2277–2284
  19. Tandri H, Calkins H, Marcus FI. Controversial role of magnetic resonance imaging in the diagnosis of arrhythmogenic right ventricular dysplasia. Am J Cardiol. 2003;92:649
  20. Bomma C, Rutberg J, Tandri H, et al. Misdiagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Cardiovasc Electrophysiol. 2004;15:300–306
  21. Macedo R, Prakasa K, Tucker A, et al:. MRI findings in patients with fat dissociation syndrome of the right ventricle. [Submitted for publication.]
  22. Shiraishi J, Tatsumi T, Shimoo K, et al. Cardiac sarcoidosis mimicking right ventricular dysplasia. Circ J. 2003;67:169–171
  23. 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
  24. O'Donnell D, Cox D, Bourke J, et al. Clinical and electrophysiological differences between patients with arrhythmogenic right ventricular dysplasia and right ventricular outflow tract tachycardia. Eur Heart J. 2003;24:801–810
  25. Tandri H, Bluemke DA, Ferrari VA, et al. Findings on magnetic resonance imaging of idiopathic right ventricular outflow tachycardia. Am J Cardiol. 2004;94:1441–1445
  26. Ainsworth CD, Skanes AC, Klein GJ, et al. Differentiating arrhythmogenic right ventricular cardiomyopathy from right ventricular outflow tract ventricular tachycardia using multilead QRS duration and axis. Heart Rhythm. 2006;4:416–423
  27. Tandri H, Asimaki A, Dalal D, et al. A case of arrhythmogenic right ventricular dysplasia due to plakophilin-2 mutation: arrhythmic, structural and functional deterioration leading to transplantation. J Cardiovasc Res [in press].
  28. Beffagna G, Occhi G, Nava A, et al. Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res. 2005;65:366–373
  29. N. Tiso, D.A. Stephan, A. Nava et al: Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). J Cardiovasc Electrophys (in press)
  30. 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
  31. 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
  32. 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
  33. Asano Y, Takashima S, Asakura M, et al. Lamr1 functional retroposon causes right ventricular dysplasia in mice. Nat Genet. 2004;36:123–130
  34. 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
  35. 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
  36. Melberg A, Oldfors A, Blomstrom-Lundqvist C, et al. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Ann Neurol. 1999;46:684–692
  37. Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol. 1998;39:418–421
  38. Norgett EE, Hatsell SJ, Carvajal-Huerta L, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000;9:2761–2766
  39. 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
  40. Protonotarios N, Tsatsopoulou A, Patsourakos P, et al. Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J. 1986;56:321–326
  41. Tosti A, Misciali C, Piraccini BA, et al. Woolly hair, palmoplantar keratoderma, and cardiac abnormalities: report of a family. Arch Dermatol. 1994;130:522–524
  42. Gerull B, Heuser A, Wichter T, et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet. 2004;36:1162–1164
  43. Dalal D, Molin LH, Piccini J, et al. Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation. 2006;113:1641–1649
  44. Awad MM, Dalal D, Cho E, et al. DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet. 2006;79:136–142
  45. Pilichou K, Nava A, Basso C, et al. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation. 2006;113:1171–1179
  46. Heuser A, Plovie ER, Ellinor PT, et al. Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2006;79:1081–1088
  47. Sen-Chowdhry S, Syrris P, McKenna WJ. Genetics of right ventricular cardiomyopathy. J Cardiovasc Electrophysiol. 2005;16:927–935
  48. Kaplan SR, Gard JJ, Protonotarios N, et al. Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). Heart Rhythm. 2004;1:3–11
  49. Fox PR, Maron BJ, Basso C, et al. Spontaneously occurring arrhythmogenic right ventricular cardiomyopathy in the domestic cat: a new animal model similar to the human disease. Circulation. 2000;102:1863–1870
  50. Harvey AM, Battersby IA, Faena M, et al. Arrhythmogenic right ventricular cardiomyopathy in two cats. J Small Anim Pract. 2005;46:151–156
  51. 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;109:1180–1411
  52. Spier AW, Meurs KM. Use of signal-averaged electrocardiography in the evaluation of arrhythmogenic right ventricular cardiomyopathy in boxers. J Am Vet Med Assoc. 2004;225:1050–1055
  53. Meurs KM, Spier AW, Miller MW, et al. Familial ventricular arrhythmias in boxers. J Vet Int Med/Am Coll Vet Intern Med. 1999;13:437–439
  54. Smith CE, Freeman LM, Rush JE, et al. Omega-3 fatty acids in boxer dogs with arrhythmogenic right ventricular cardiomyopathy. J Vet Intern Med. 2005;21:265–273
  55. Kirchhof P, Fabritz L, Zwiener M, et al. Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice. Circulation. 2006;114:1799–1806
  56. Yang Z, Bowles NE, Scherer SE, et al. Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res. 2006;99:646–655
  57. Piccini JP, Dalal D, Roguin A, et al. Predictors of appropriate implantable defibrillator therapies in patients with arrhythmogenic right ventricular dysplasia. Heart Rhythm. 2005;2:1188–1194
  58. Wichter 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
  59. Corrado D, Leoni L, Link MS, et al. Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation. 2003;108:3084–3091
  60. Roguin A, Bomma CS, Nasir K, et al. Implantable cardioverter-defibrillators in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol. 2004;43:1843–1852
  61. Hiroi Y, Fujiu K, Komatsu S, et al. Carvedilol therapy improved left ventricular function in a patient with arrhythmogenic right ventricular cardiomyopathy. Jpn Heart J. 2004;45:169–177
  62. Zou J, Cao K, Yang B, et al. Dynamic substrate mapping and ablation of ventricular tachycardias in right ventricular dysplasia. J Interv Card Electrophysiol. 2004;11:37–45
  63. Dalal D, Jain R, Tandri H, et al. Long term efficacy of catheter ablation of ventricular tachycardia in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol. 2007;50:432–440
  64. Lacroix D, Lions C, Klug D, et al. Arrhythmogenic right ventricular dysplasia: catheter ablation, MRI, and heart transplantation. J Cardiovasc Electrophysiol. 2005;16:235–236
  65. Marcus F, Towbin JA, Zareba W, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a multidisciplinary study: design and protocol. Circulation. 2003;107:2975–2978

PII: S0033-0620(08)00003-0

doi: 10.1016/j.pcad.2008.01.002

Progress in Cardiovascular Diseases
Volume 51, Issue 1 , Pages 31-43 , July 2008

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