Heart, Lung and Circulation

Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy: Progress and Pitfalls

Published:April 04, 2018DOI:
      Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy that predominantly affects the right ventricle. With a prevalence in the range of 1:5000 to 1:2000 persons, ARVC is one of the leading causes of sudden cardiac death in young people and in athletes. Although early detection and treatment is important, the diagnosis of ARVC remains challenging. There is no single pathognomonic diagnostic finding in ARVC; rather, current international task force criteria specify diagnostic major and minor criteria in six categories: right ventricular imaging (including echocardiography and cardiac magnetic resonance imaging (MRI)), histology, repolarisation abnormalities, depolarisation and conduction abnormalities, arrhythmias and family history (including genetic testing). Combining findings from differing diagnostic modalities can establish a “definite”, “borderline” or “possible” diagnosis of ARVC. However, there are limitations inherent in the current task force criteria, including the lack of specificity for ARVC; future iterations may be improved, for example, by enhanced imaging protocols able to detect subtle changes in the structure and function of the right ventricle, incorporation of electro-anatomical data, response to adrenergic challenge, and validated criteria for interpreting genetic variants.


      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to Heart, Lung and Circulation
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Marcus F.I.
        • Fontaine G.H.
        • Guiraudon G.
        • Frank R.
        • Laurenceau J.L.
        • Malergue C.
        • et al.
        Right ventricular dysplasia: a report of 24 adult cases.
        Circulation. 1982; 65: 384-398
        • 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: 129-133
        • Bagnall R.D.
        • Weintraub R.G.
        • Ingles J.
        • Duflou J.
        • Yeates L.
        • Lam L.
        • et al.
        A prospective study of sudden cardiac death among children and young adults.
        N Engl J Med. 2016; 374: 2441-2452
        • Bhonsale A.
        • Groeneweg J.A.
        • James C.A.
        • Dooijes D.
        • Tichnell C.
        • Jongbloed J.D.
        • et al.
        Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.
        Eur Heart J. 2015; 36: 847-855
        • James C.A.
        • Bhonsale A.
        • Tichnell C.
        • Murray B.
        • Russell S.D.
        • Tandri H.
        • 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: 1290-1297
        • Rigato I.
        • Bauce B.
        • Rampazzo A.
        • Zorzi A.
        • Pilichou K.
        • Mazzotti E.
        • et al.
        Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.
        Circ Cardiovasc Genet. 2013; 6: 533-542
        • McKenna W.J.
        • Thiene G.
        • Nava A.
        • Fontaliran F.
        • Blomstrom-Lundqvist C.
        • Fontaine G.
        • 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
        • Sen-Chowdhry S.
        • Prasad S.K.
        • Syrris P.
        • Wage R.
        • Ward D.
        • Merrifield R.
        • 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
        • Marcus F.I.
        • McKenna W.J.
        • Sherrill D.
        • Basso C.
        • Bauce B.
        • Bluemke D.A.
        • et al.
        Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria.
        Circulation. 2010; 121: 1533-1541
        • Femia G.
        • Sy R.W.
        • Puranik R.
        Systematic review: impact of the new task force criteria in the diagnosis of arrhythmogenic right ventricular cardiomyopathy.
        Int J Cardiol. 2017; 241: 311-317
        • Borgquist R.
        • Haugaa K.H.
        • Gilljam T.
        • Bundgaard H.
        • Hansen J.
        • Eschen O.
        • et al.
        The diagnostic performance of imaging methods in ARVC using the 2010 task force criteria.
        EHC Cardiovasc Imaging. 2014; 15: 1219-1225
        • Sugeng L.
        • Mor-Avi V.
        • Weinert L.
        • Niel J.
        • Ebner C.
        • Steringer-Mascherbauer R.
        • et al.
        Multimodality comparison of quantitative volumetric analysis of the right ventricle.
        JACC Cardiovasc Imaging. 2010; 3: 10-18
        • Etoom Y.
        • Govindapillai S.
        • Hamilton R.
        • Manlhiot C.
        • Yoo S.J.
        • Farhan M.
        • 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: 987-995
        • Tandri H.
        • Castillo E.
        • Ferrari V.A.
        • Nasir K.
        • Dalal D.
        • Bomma C.
        • 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
        • Taylor A.J.
        • Salerno M.
        • Dharmakumar R.
        • Jerosch-Herold M.
        T1 mapping: basic techniques and clinical applications.
        JACC Cardiovasc Imaging. 2016; 9: 67-81
        • Gnanappa G.K.
        • Rashid I.
        • Celermajer D.
        • Ayer J.
        • Puranik R.
        Reproducibility of cardiac magnetic resonance imaging (CMRI)-derived right ventricular parameters in repaired tetralogy of fallot (ToF).
        Heart Lung Circ. 2017; (Epub ahead of print)
        • Marcus F.I.
        Prevalence of T-wave inversion beyond V1 in young individuals and usefulness for the diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia.
        Am J Cardiol. 2005; 95: 1070-1071
        • Zorzi A.
        • Migliore F.
        • Elmaghawry M.
        • Silvano M.
        • Marra M.P.
        • Niero A.
        • et al.
        Electrocardiographic predictors of electroanatomic scar size in arrhythmogenic right ventricular cardiomyopathy: implications for arrhythmic risk stratification.
        J Cardiovasc Electrophysiol. 2013; 24: 1321-1327
        • Marcus F.I.
        • Zareba W.
        The electrocardiogram in right ventricular cardiomyopathy/dysplasia. How can the electrocardiogram assist in understanding the pathologic and functional changes of the heart in this disease?.
        J Electrocardiol. 2009; 42: 136
        • Platonov P.G.
        • Calkins H.
        • Hauer R.N.
        • Corrado D.
        • Svendsen J.H.
        • Wichter T.
        • et al.
        High interobserver variability in the assessment of epsilon waves: implications for diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia.
        Heart Rhythm. 2016; 13: 208-216
        • Cox M.G.P.J.
        • Nelen M.R.
        • Wilde A.A.M.
        • Wiesfeld A.C.
        • van der Smagt J.
        • Loh P.
        • et al.
        Activation delay and VT parameters in arrhythmogenic right ventricular dysplasia/cardiomyopathy: toward improvement of diagnostic ECG criteria.
        J Cardiovasc Electrophysiol. 2008; 19: 775-781
        • Kapplinger J.D.
        • Landstrom A.P.
        • Salisbury B.A.
        • Callis T.E.
        • Pollevick G.D.
        • Tester D.J.
        • et al.
        Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia associated mutations from background genetic noise.
        J Am Coll Cardiol. 2011; 57: 2317-2327
        • Ackerman M.J.
        • Priori S.G.
        • Willems S.
        • Berul C.
        • Brugada R.
        • Calkins H.
        • et al.
        HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies.
        Europace. 2011; 13: 1077-1109
        • Migliore F.
        • Zorzi A.
        • Silvano M.
        • Bevilacqua M.
        • Leoni L.
        • Marra M.P.
        • et al.
        Prognostic value of endocardial voltage mapping in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia.
        Circ Arrhythm Electrophysiol. 2013; 6: 167-176
        • Polin G.M.
        • Haqqani H.
        • Tzou W.
        • Hutchinson M.D.
        • Garcia F.C.
        • Callans D.J.
        • et al.
        Endocardial unipolar voltage mapping to identify epicardial substrate in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
        Heart Rhythm. 2011; 8: 76-83
        • Tandri H.
        • Asimaki A.
        • Abraham T.
        • Dalal D.
        • Tops L.
        • Jain R.
        • et al.
        Prolonged RV endocardial activation duration: a novel marker of arrhythmogenic right ventricular dysplasia/cardiomyopathy.
        Heart Rhythm. 2009; 6: 769-775
        • Corrado D.
        • Leoni L.
        • Link M.S.
        • Della B.P.
        • Gaita F.
        • Curnis A.
        • et al.
        Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia.
        Circulation. 2003; 108: 3084-3091
        • Bhonsale A.
        • James C.A.
        • Tichnell C.
        • Murray B.
        • Gagarin D.
        • Philips B.
        • 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: 1485-1496
        • Perrin M.J.
        • Angaran P.
        • Laksman Z.
        • Zhang H.
        • Porepa L.F.
        • Rutberg J.
        • et al.
        Exercise testing in asymptomatic gene carriers exposes a latent electrical substrate of arrhythmogenic right ventricular cardiomyopathy.
        J Am Coll Cardiol. 2013; 62: 1772-1779
        • Denis A.
        • Sacher F.
        • Derval N.
        • Lim H.S.
        • Cochet H.
        • Shah A.J.
        • et al.
        Diagnostic value of isoproterenol testing in arrhythmogenic right ventricular cardiomyopathy.
        Circ Arrhythm Electrophysiol. 2014; 7: 590-597
        • Zaidi A.
        • Sheikh N.
        • Jongman J.K.
        • Gati S.
        • Panoulas V.F.
        • Carr-White G.
        • et al.
        Clinical differentiation between physiological remodeling and arrhythmogenic right ventricular cardiomyopathy in athletes with marked electrocardiographic repolarization anomalies.
        J Am Coll Cardiol. 2015; 65: 2702-2711
        • Heidbüchel H.1
        • Hoogsteen J.
        • Fagard R.
        • Vanhees L.
        • Ector H.
        • Willems R.
        • et al.
        High prevalence of right ventricular involvement in endurance athletes with ventricular arrhythmias. Role of an electrophysiologic study in risk stratification.
        Eur Heart J. 2003; 24: 1473-1480
        • La Gerche A.
        Defining the interaction between exercise and arrhythmogenic right ventricular cardiomyopathy.
        Eur J Heart Fail. 2015; 17: 128-131