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Arrhythmogenic right ventricular cardiomyopathy: Diagnostic evaluation and diagnosis

Author
William J McKenna, MD
Section Editor
Hugh Calkins, MD
Deputy Editor
Brian C Downey, MD, FACC

INTRODUCTION

Arrhythmogenic right ventricular cardiomyopathy (ARVC), formerly called "arrhythmogenic right ventricular dysplasia" (ARVD), is an underrecognized clinical entity characterized by ventricular arrhythmias and a characteristic ventricular pathology [1-3]. Macroscopically, there is a scarred appearance with fibrous or fibro-fatty replacement of myocardium. Multiple reports have historically characterized these pathologic changes as the "triangle of dysplasia" involving the inflow tract, outflow tract, and/or apex of the RV. However, more recent data have noted involvement of the posterolateral left ventricle (LV) with sparing of the right ventricle (RV) apex early in the disease [4]. The RV myocardial scarring initially produces typical regional wall motion abnormalities but later may involve the free wall and become global, producing RV dilation. The tissue replacement can also involve areas of the LV with relative sparing of the septum [5].

Clinical perspectives of ARVC primarily arise from experience with patients who present with arrhythmias of RV origin and/or sudden death. Presentation is most common between the ages of 10 and 50 years, with a mean age at diagnosis of approximately 30 years [6-9]. The disease is virtually never diagnosed in infants or toddlers and uncommonly before the age of 10. The diagnosis of ARVC requires a high degree of clinical suspicion and frequently multiple diagnostic tests or procedures. Because many of the clinical findings and test results are neither highly sensitive nor specific for ARVC, diagnostic criteria have been published by professional societies in an effort to standardize the diagnostic.

The diagnostic evaluation of a patient with suspected ARVC, and the diagnosis/diagnostic criteria of ARVC, will be reviewed here. The pathogenesis, genetics, anatomy, histology, clinical manifestations, treatment, and prognosis of ARVC are discussed separately. (See "Arrhythmogenic right ventricular cardiomyopathy: Pathogenesis and genetics" and "Arrhythmogenic right ventricular cardiomyopathy: Anatomy, histology, and clinical manifestations" and "Arrhythmogenic right ventricular cardiomyopathy: Treatment and prognosis".)

DIAGNOSTIC EVALUATION

General approach — As an initial approach, we recommend a thorough family history as well as a 12-lead electrocardiogram (ECG), transthoracic echocardiography, ambulatory ECG monitoring, signal-averaged ECG, and cardiac magnetic resonance (CMR) imaging in all patients with a suspected diagnosis of ARVC. Some experts also perform exercise ECG testing in all patients with suspected ARVC, but this is not universally done. Most patients who present with arrhythmia and a suspected diagnosis of ARVC can be diagnosed using a combination of noninvasive electrocardiographic and imaging evaluations. (See "Arrhythmogenic right ventricular cardiomyopathy: Anatomy, histology, and clinical manifestations".)

Selected additional testing should be performed based on the clinical scenario or when the results of initial testing are non-diagnostic and may include one or more of the following:

                       

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Literature review current through: Apr 2017. | This topic last updated: Nov 16, 2016.
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References
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  1. European Heart Rhythm Association, Heart Rhythm Society, Zipes DP, et al. ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (Writing Committee to Develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death). J Am Coll Cardiol 2006; 48:e247.
  2. Gemayel C, Pelliccia A, Thompson PD. Arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2001; 38:1773.
  3. Sen-Chowdhry S, Lowe MD, Sporton SC, McKenna WJ. Arrhythmogenic right ventricular cardiomyopathy: clinical presentation, diagnosis, and management. Am J Med 2004; 117:685.
  4. Te Riele AS, James CA, Philips B, et al. Mutation-positive arrhythmogenic right ventricular dysplasia/cardiomyopathy: the triangle of dysplasia displaced. J Cardiovasc Electrophysiol 2013; 24:1311.
  5. Richardson P, McKenna W, Bristow M, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation 1996; 93:841.
  6. Dalal D, Nasir K, Bomma C, et al. Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation 2005; 112:3823.
  7. Nava A, Bauce B, Basso C, et al. Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2000; 36:2226.
  8. Hulot JS, Jouven X, Empana JP, et al. Natural history and risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation 2004; 110:1879.
  9. Groeneweg JA, Bhonsale A, James CA, et al. Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. Circ Cardiovasc Genet 2015; 8:437.
  10. Jaoude SA, Leclercq JF, Coumel P. Progressive ECG changes in arrhythmogenic right ventricular disease. Evidence for an evolving disease. Eur Heart J 1996; 17:1717.
  11. te Riele AS, James CA, Bhonsale A, et al. Malignant arrhythmogenic right ventricular dysplasia/cardiomyopathy with a normal 12-lead electrocardiogram: a rare but underrecognized clinical entity. Heart Rhythm 2013; 10:1484.
  12. Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation 2010; 121:1533.
  13. 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.
  14. Platonov PG, Calkins H, Hauer RN, et al. High interobserver variability in the assessment of epsilon waves: Implications for diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart Rhythm 2016; 13:208.
  15. Nava A, Canciani B, Buja G, et al. Electrovectorcardiographic study of negative T waves on precordial leads in arrhythmogenic right ventricular dysplasia: relationship with right ventricular volumes. J Electrocardiol 1988; 21:239.
  16. Bhonsale A, James CA, Tichnell C, et al. Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. Circ Arrhythm Electrophysiol 2013; 6:569.
  17. Piccini JP, Nasir K, Bomma C, et al. Electrocardiographic findings over time in arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Cardiol 2005; 96:122.
  18. Quarta G, Ward D, Tomé Esteban MT, et al. Dynamic electrocardiographic changes in patients with arrhythmogenic right ventricular cardiomyopathy. Heart 2010; 96:516.
  19. Camm CF, Tichnell C, James CA, et al. Premature ventricular contraction variability in arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Cardiovasc Electrophysiol 2015; 26:53.
  20. Denis A, Sacher F, Derval N, et al. Diagnostic value of isoproterenol testing in arrhythmogenic right ventricular cardiomyopathy. Circ Arrhythm Electrophysiol 2014; 7:590.
  21. Leclercq JF, Coumel P. Late potentials in arrhythmogenic right ventricular dysplasia. Prevalence, diagnostic and prognostic values. Eur Heart J 1993; 14 Suppl E:80.
  22. Kinoshita O, Fontaine G, Rosas F, et al. Time- and frequency-domain analyses of the signal-averaged ECG in patients with arrhythmogenic right ventricular dysplasia. Circulation 1995; 91:715.
  23. Mehta D, Goldman M, David O, Gomes JA. Value of quantitative measurement of signal-averaged electrocardiographic variables in arrhythmogenic right ventricular dysplasia: correlation with echocardiographic right ventricular cavity dimensions. J Am Coll Cardiol 1996; 28:713.
  24. Turrini P, Angelini A, Thiene G, et al. Late potentials and ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy. Am J Cardiol 1999; 83:1214.
  25. Blomström-Lundqvist C, Hirsch I, Olsson SB, Edvardsson N. Quantitative analysis of the signal-averaged QRS in patients with arrhythmogenic right ventricular dysplasia. Eur Heart J 1988; 9:301.
  26. Kamath GS, Zareba W, Delaney J, et al. Value of the signal-averaged electrocardiogram in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart Rhythm 2011; 8:256.
  27. Hermida JS, Minassian A, Jarry G, et al. Familial incidence of late ventricular potentials and electrocardiographic abnormalities in arrhythmogenic right ventricular dysplasia. Am J Cardiol 1997; 79:1375.
  28. Bauce B, Rampazzo A, Basso C, et al. Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations. Heart Rhythm 2011; 8:1686.
  29. Manyari DE, Duff HJ, Kostuk WJ, et al. Usefulness of noninvasive studies for diagnosis of right ventricular dysplasia. Am J Cardiol 1986; 57:1147.
  30. 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.
  31. Scheinman MM, Crawford MH. Echocardiographic findings and the search for a gold standard in patients with arrhythmogenic right ventricular dysplasia. J Am Coll Cardiol 2005; 45:866.
  32. Boxt LM, Rozenshtein A. MR imaging of arrhythmogenic right ventricular dysplasia. Magn Reson Imaging Clin N Am 2003; 11:163.
  33. Midiri M, Finazzo M, Brancato M, et al. Arrhythmogenic right ventricular dysplasia: MR features. Eur Radiol 1997; 7:307.
  34. Bluemke DA, Krupinski EA, Ovitt T, et al. MR Imaging of arrhythmogenic right ventricular cardiomyopathy: morphologic findings and interobserver reliability. Cardiology 2003; 99:153.
  35. 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.
  36. Sen-Chowdhry S, Prasad SK, Syrris P, et al. Cardiovascular magnetic resonance in arrhythmogenic right ventricular cardiomyopathy revisited: comparison with task force criteria and genotype. J Am Coll Cardiol 2006; 48:2132.
  37. 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.
  38. Norman M, Simpson M, Mogensen J, et al. Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation 2005; 112:636.
  39. 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.
  40. 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.
  41. Fogel MA, Weinberg PM, Harris M, Rhodes L. Usefulness of magnetic resonance imaging for the diagnosis of right ventricular dysplasia in children. Am J Cardiol 2006; 97:1232.
  42. Quarta G, Muir A, Pantazis A, et al. Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. Circulation 2011; 123:2701.
  43. Etoom Y, Govindapillai S, Hamilton R, et al. Importance of CMR within the Task Force Criteria for the diagnosis of ARVC in children and adolescents. J Am Coll Cardiol 2015; 65:987.
  44. Daliento L, Rizzoli G, Thiene G, et al. Diagnostic accuracy of right ventriculography in arrhythmogenic right ventricular cardiomyopathy. Am J Cardiol 1990; 66:741.
  45. Daubert C, Descaves C, Foulgoc JL, et al. Critical analysis of cineangiographic criteria for diagnosis of arrhythmogenic right ventricular dysplasia. Am Heart J 1988; 115:448.
  46. 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.
  47. Le Guludec D, Slama MS, Frank R, et al. Evaluation of radionuclide angiography in diagnosis of arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 1995; 26:1476.
  48. Mariano-Goulart D, Déchaux L, Rouzet F, et al. Diagnosis of diffuse and localized arrhythmogenic right ventricular dysplasia by gated blood-pool SPECT. J Nucl Med 2007; 48:1416.
  49. 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.
  50. Corrado D, Wichter T, Link MS, et al. Treatment of arrhythmogenic right ventricular cardiomyopathy/dysplasia: an international task force consensus statement. Eur Heart J 2015; 36:3227.
  51. Boulos M, Lashevsky I, Reisner S, Gepstein L. Electroanatomic mapping of arrhythmogenic right ventricular dysplasia. J Am Coll Cardiol 2001; 38:2020.
  52. Migliore F, Zorzi A, Silvano M, et al. Prognostic value of endocardial voltage mapping in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circ Arrhythm Electrophysiol 2013; 6:167.
  53. Marra MP, Leoni L, Bauce B, et al. 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.
  54. Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm 2011; 8:1308.
  55. Paul M, Stypmann J, Gerss J, et al. Safety of endomyocardial biopsy in patients with arrhythmogenic right ventricular cardiomyopathy: a study analyzing 161 diagnostic procedures. JACC Cardiovasc Interv 2011; 4:1142.
  56. Kitzman DW, Scholz DG, Hagen PT, et al. Age-related changes in normal human hearts during the first 10 decades of life. Part II (Maturity): A quantitative anatomic study of 765 specimens from subjects 20 to 99 years old. Mayo Clin Proc 1988; 63:137.
  57. Basso C, Ronco F, Marcus F, et al. Quantitative assessment of endomyocardial biopsy in arrhythmogenic right ventricular cardiomyopathy/dysplasia: an in vitro validation of diagnostic criteria. Eur Heart J 2008; 29:2760.
  58. Angelini A, Basso C, Nava A, Thiene G. Endomyocardial biopsy in arrhythmogenic right ventricular cardiomyopathy. Am Heart J 1996; 132:203.
  59. Avella A, d'Amati G, Pappalardo A, et al. Diagnostic value of endomyocardial biopsy guided by electroanatomic voltage mapping in arrhythmogenic right ventricular cardiomyopathy/dysplasia. J Cardiovasc Electrophysiol 2008; 19:1127.
  60. Asimaki A, Tandri H, Huang H, et al. A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. N Engl J Med 2009; 360:1075.
  61. Munkholm J, Christensen AH, Svendsen JH, Andersen CB. Usefulness of immunostaining for plakoglobin as a diagnostic marker of arrhythmogenic right ventricular cardiomyopathy. Am J Cardiol 2012; 109:272.
  62. Ermakov S, Ursell PC, Johnson CJ, et al. Plakoglobin immunolocalization as a diagnostic test for arrhythmogenic right ventricular cardiomyopathy. Pacing Clin Electrophysiol 2014; 37:1708.
  63. Niroomand F, Carbucicchio C, Tondo C, et al. Electrophysiological characteristics and outcome in patients with idiopathic right ventricular arrhythmia compared with arrhythmogenic right ventricular dysplasia. Heart 2002; 87:41.
  64. Hamid MS, Norman M, Quraishi A, et al. Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol 2002; 40:1445.
  65. Syrris P, Ward D, Asimaki A, et al. Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. Circulation 2006; 113:356.
  66. Protonotarios N, Anastasakis A, Antoniades L, et al. Arrhythmogenic right ventricular cardiomyopathy/dysplasia on the basis of the revised diagnostic criteria in affected families with desmosomal mutations. Eur Heart J 2011; 32:1097.
  67. Cox MG, van der Zwaag PA, van der Werf C, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study. Circulation 2011; 123:2690.
  68. te Riele AS, James CA, Groeneweg JA, et al. Approach to family screening in arrhythmogenic right ventricular dysplasia/cardiomyopathy. Eur Heart J 2016; 37:755.
  69. te Riele AS, James CA, Rastegar N, et al. Yield of serial evaluation in at-risk family members of patients with ARVD/C. J Am Coll Cardiol 2014; 64:293.
  70. Marcus F, Mestroni L. Family members of patients with ARVC: who is at risk? At what age? When and how often should we evaluate to determine risk? J Am Coll Cardiol 2014; 64:302.