Arrhythmogenic right ventricular cardiomyopathy: Treatment and prognosis
- William J McKenna, MD
William J McKenna, MD
- Section Editor — Myopericardial Disease
- Professor of Cardiology
- University College, London
Arrhythmogenic right ventricular cardiomyopathy (ARVC), also called arrhythmogenic right ventricular dysplasia (ARVD), is an underrecognized clinical entity manifested by ventricular arrhythmias and a specific ventricular pathology [1-3]. It is characterized macroscopically by a fatty appearance of the right ventricular (RV) free wall. The fibrofatty replacement of the RV myocardium initially produces typical regional wall motion abnormalities that later become global, producing RV dilation. The tissue replacement can also involve areas of the left ventricle (LV) with relative sparing of the septum .
The prevalence in the general population is estimated to be approximately 1:1000 . ARVC appears to be relatively common in young adults in northern Italy [2,5], accounting for approximately 11 percent of the cases of sudden cardiac death (SCD) overall and 22 percent in athletes .
In contrast, ARVC has been rarely diagnosed in the United States, but it appears to be identified with increasing frequency. This may reflect a difference in genetic prevalence, but is more likely due to under recognition of disease. In a series of 100 ARVC patients from a single referral center in the United States, clinical profiles and event rates were similar to those reported in Europe .
The treatment and prognosis of ARVC will be reviewed here. The genetics, pathogenesis, clinical manifestations, diagnostic criteria, and evaluation are discussed separately. (See "Arrhythmogenic right ventricular cardiomyopathy: Anatomy, histology, pathogenesis, and genetics" and "Clinical manifestations and diagnosis of arrhythmogenic right ventricular cardiomyopathy".)
General approach — The optimal strategies for preventing sudden cardiac death (SCD) and the indications for implantable cardioverter-defibrillator (ICD) therapy in patients with ARVC are not well-defined . Although some studies suggest that patients with hemodynamically tolerated arrhythmias do well when treated with antiarrhythmic drugs, current guidelines recommend ICD implantation for secondary prevention of SCD in patients with sustained ventricular tachycardia (VT) or ventricular fibrillation (VF) and for primary prevention in selected high-risk patients . Antiarrhythmic drugs may be required in patients with asymptomatic or symptomatic arrhythmia or as an adjunct to an ICD. (See 'Role of ICD' below and 'Antiarrhythmic drugs' below.)
- Gemayel C, Pelliccia A, Thompson PD. Arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2001; 38:1773.
- Corrado D, Fontaine G, Marcus FI, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. Study Group on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy of the Working Groups on Myocardial and Pericardial Disease and Arrhythmias of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the World Heart Federation. Circulation 2000; 101:E101.
- Sen-Chowdhry S, Lowe MD, Sporton SC, McKenna WJ. Arrhythmogenic right ventricular cardiomyopathy: clinical presentation, diagnosis, and management. Am J Med 2004; 117:685.
- 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.
- Corrado D, Basso C, Schiavon M, Thiene G. Screening for hypertrophic cardiomyopathy in young athletes. N Engl J Med 1998; 339:364.
- Dalal D, Nasir K, Bomma C, et al. Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation 2005; 112:3823.
- Wichter T, Breithardt G. Implantable cardioverter-defibrillator therapy in arrhythmogenic right ventricular cardiomyopathy: a role for genotyping in decision-making? J Am Coll Cardiol 2005; 45:409.
- 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.
- Maron BJ, Ackerman MJ, Nishimura RA, et al. Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome. J Am Coll Cardiol 2005; 45:1340.
- 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.
- James CA, Bhonsale A, Tichnell C, et al. Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. J Am Coll Cardiol 2013; 62:1290.
- Ruwald AC, Marcus F, Estes NA 3rd, et al. Association of competitive and recreational sport participation with cardiac events in patients with arrhythmogenic right ventricular cardiomyopathy: results from the North American multidisciplinary study of arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 2015; 36:1735.
- 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.
- Hodgkinson KA, Parfrey PS, Bassett AS, et al. The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5). J Am Coll Cardiol 2005; 45:400.
- Gatzoulis K, Protonotarios N, Anastasakis A, et al. Implantable defibrillator therapy in Naxos disease. Pacing Clin Electrophysiol 2000; 23:1176.
- Epstein AE, DiMarco JP, Ellenbogen KA, et al. 2012 ACCF/AHA/HRS focused update incorporated into the ACCF/AHA/HRS 2008 guidelines for device-based therapy of cardiac rhythm abnormalities: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines and the Heart Rhythm Society. J Am Coll Cardiol 2013; 61:e6.
- Corrado D, Calkins H, Link MS, et al. Prophylactic implantable defibrillator in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia and no prior ventricular fibrillation or sustained ventricular tachycardia. Circulation 2010; 122:1144.
- 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.
- 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.
- Link MS, Laidlaw D, Polonsky B, et al. Ventricular arrhythmias in the North American multidisciplinary study of ARVC: predictors, characteristics, and treatment. J Am Coll Cardiol 2014; 64:119.
- Schinkel AF. Implantable cardioverter defibrillators in arrhythmogenic right ventricular dysplasia/cardiomyopathy: patient outcomes, incidence of appropriate and inappropriate interventions, and complications. Circ Arrhythm Electrophysiol 2013; 6:562.
- Tavernier R, Gevaert S, De Sutter J, et al. Long term results of cardioverter-defibrillator implantation in patients with right ventricular dysplasia and malignant ventricular tachyarrhythmias. Heart 2001; 85:53.
- Link MS, Wang PJ, Haugh CJ, et al. Arrhythmogenic right ventricular dysplasia: clinical results with implantable cardioverter defibrillators. J Interv Card Electrophysiol 1997; 1:41.
- 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.
- Wichter T, Borggrefe M, Haverkamp W, et al. Efficacy of antiarrhythmic drugs in patients with arrhythmogenic right ventricular disease. Results in patients with inducible and noninducible ventricular tachycardia. Circulation 1992; 86:29.
- Verma A, Kilicaslan F, Schweikert RA, et al. Short- and long-term success of substrate-based mapping and ablation of ventricular tachycardia in arrhythmogenic right ventricular dysplasia. Circulation 2005; 111:3209.
- Marchlinski FE, Zado E, Dixit S, et al. Electroanatomic substrate and outcome of catheter ablative therapy for ventricular tachycardia in setting of right ventricular cardiomyopathy. Circulation 2004; 110:2293.
- Reithmann C, Hahnefeld A, Remp T, et al. Electroanatomic mapping of endocardial right ventricular activation as a guide for catheter ablation in patients with arrhythmogenic right ventricular dysplasia. Pacing Clin Electrophysiol 2003; 26:1308.
- 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.
- Philips B, Madhavan S, James C, et al. Outcomes of catheter ablation of ventricular tachycardia in arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Arrhythm Electrophysiol 2012; 5:499.
- Berruezo A, Fernández-Armenta J, Mont L, et al. Combined endocardial and epicardial catheter ablation in arrhythmogenic right ventricular dysplasia incorporating scar dechanneling technique. Circ Arrhythm Electrophysiol 2012; 5:111.
- Guiraudon GM, Klein GJ, Sharma AD, et al. Surgical therapy for arrhythmogenic right ventricular adiposis. Eur Heart J 1989; 10 Suppl D:82.
- Damiano RJ Jr, Asano T, Smith PK, Cox JL. Effect of the right ventricular isolation procedure on ventricular vulnerability to fibrillation. J Am Coll Cardiol 1990; 15:730.
- Tedford RJ, James C, Judge DP, et al. Cardiac transplantation in arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol 2012; 59:289.
- 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.
- Marcus FI, Fontaine GH, Frank R, et al. Long-term follow-up in patients with arrhythmogenic right ventricular disease. Eur Heart J 1989; 10 Suppl D:68.
- Lemery R, Brugada P, Janssen J, et al. Nonischemic sustained ventricular tachycardia: clinical outcome in 12 patients with arrhythmogenic right ventricular dysplasia. J Am Coll Cardiol 1989; 14:96.
- Hulot JS, Jouven X, Empana JP, et al. Natural history and risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation 2004; 110:1879.
- Bhonsale A, James CA, Tichnell C, et al. Incidence and predictors of implantable cardioverter-defibrillator therapy in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy undergoing implantable cardioverter-defibrillator implantation for primary prevention. J Am Coll Cardiol 2011; 58:1485.
- Saguner AM, Medeiros-Domingo A, Schwyzer MA, et al. Usefulness of inducible ventricular tachycardia to predict long-term adverse outcomes in arrhythmogenic right ventricular cardiomyopathy. Am J Cardiol 2013; 111:250.
- Le Guludec D, Gauthier H, Porcher R, et al. Prognostic value of radionuclide angiography in patients with right ventricular arrhythmias. Circulation 2001; 103:1972.
- Merner ND, Hodgkinson KA, Haywood AF, et al. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet 2008; 82:809.
- Protonotarios N, Tsatsopoulou A, Anastasakis A, et al. Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. J Am Coll Cardiol 2001; 38:1477.
- Turrini P, Corrado D, Basso C, et al. Dispersion of ventricular depolarization-repolarization: a noninvasive marker for risk stratification in arrhythmogenic right ventricular cardiomyopathy. Circulation 2001; 103:3075.
- 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.
- Epstein AE, DiMarco JP, Ellenbogen KA, et al. ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices): developed in collaboration with the American Association for Thoracic Surgery and Society of Thoracic Surgeons. Circulation 2008; 117:e350.
- General approach
- Activity restriction
- Role of beta-blocking agents
- Role of ICD
- - ICD indications
- - Efficacy
- - ICD complications
- - Electrophysiologic testing
- - Electrical storm
- Antiarrhythmic drugs
- Radiofrequency ablation
- - Combined endocardial and epicardial mapping and ablation
- Surgery for ventricular arrhythmias
- Cardiac transplantation
- Course in asymptomatic patients
- Course in patients with VT
- High-risk groups
- SUMMARY AND RECOMMENDATIONS