[Guideline] 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 Mar. 71(3):215-8. [Medline]. [Full Text].
Corrado D, Basso C, Schiavon M, Thiene G. Screening for hypertrophic cardiomyopathy in young athletes. N Engl J Med. 1998 Aug 6. 339(6):364-9. [Medline].
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 Dec 16. 108(24):3000-5. [Medline].
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 Mar 1. 93(5):841-2. [Medline].
Saguner AM, Brunckhorst C, Duru F. Arrhythmogenic ventricular cardiomyopathy: a paradigm shift from right to biventricular disease. World J Cardiol. 2014 Apr 26. 6(4):154-74. [Medline]. [Full Text].
Hamid MS, Norman M, Quraishi A, Firoozi S, Thaman R, Gimeno JR, 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 Oct 16. 40(8):1445-50. [Medline].
Sen-Chowdhry S, Syrris P, Ward D, Asimaki A, Sevdalis E, McKenna WJ. Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. Circulation. 2007 Apr 3. 115(13):1710-20. [Medline].
Corrado D, Basso C, Thiene G, et al. Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. J Am Coll Cardiol. 1997 Nov 15. 30(6):1512-20. [Medline].
Johns Hopkins Medicine. Heart and Vascular Institute. ARVD/C Program. Available at https://www.hopkinsmedicine.org/heart_vascular_institute/centers_excellence/arvd/index.html. Accessed: December 28, 2020.
Dalal D, James C, Devanagondi R, et al. Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol. 2006 Oct 3. 48 (7):1416-24. [Medline].
Moric-Janiszewska E, Markiewicz-Loskot G. Review on the genetics of arrhythmogenic right ventricular dysplasia. Europace. 2007 May. 9 (5):259-66. [Medline].
Coonar AS, Protonotarios N, Tsatsopoulou A, et al. Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. Circulation. 1998 May 26. 97 (20):2049-58. [Medline].
Protonotarios N, Tsatsopoulou A, Patsourakos P, et al. Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J. 1986 Oct. 56 (4):321-6. [Medline]. [Full Text].
Xu T, Yang Z, Vatta M, et al, for the Multidisciplinary Study of Right Ventricular Dysplasia Investigators. Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2010 Feb 9. 55 (6):587-97. [Medline]. [Full Text].
Bauce B, Nava A, Beffagna G, et al. Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart Rhythm. 2010 Jan. 7 (1):22-9. [Medline].
Syrris P, Ward D, Asimaki A, et al. Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. Circulation. 2006 Jan 24. 113 (3):356-64. [Medline].
Te Riele AS, Agullo-Pascual E, James CA, et al. Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis. Cardiovasc Res. 2017 Jan. 113 (1):102-11. [Medline].
[Guideline] 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). Europace. 2011 Aug. 13(8):1077-109. [Medline].
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 Apr. 7(3):84-90. [Medline].
Peters S, Trümmel M, Meyners W. Prevalence of right ventricular dysplasia-cardiomyopathy in a non-referral hospital. Int J Cardiol. 2004 Dec. 97(3):499-501. [Medline].
Dalal D, Nasir K, Bomma C, et al. Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation. 2005 Dec 20. 112 (25):3823-32. [Medline].
Hodes AR, Tichnell C, Te Riele AS, et al. Pregnancy course and outcomes in women with arrhythmogenic right ventricular cardiomyopathy. Heart. 2016 Feb 15. 102 (4):303-12. [Medline].
Lin CY, Chung FP, Lin YJ, et al. Gender differences in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy: Clinical manifestations, electrophysiological properties, substrate characteristics, and prognosis of radiofrequency catheter ablation. Int J Cardiol. 2017 Jan 15. 227:930-7. [Medline].
Cadrin-Tourigny J, Bosman LP, Nozza A, et al. A new prediction model for ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy. Eur Heart J. 2019 Jun 14. 40 (23):1850-8. [Medline].
Aquaro GD, De Luca A, Cappelletto C, et al. Prognostic value of magnetic resonance phenotype in patients with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2020 Jun 9. 75 (22):2753-65. [Medline].
Hulot JS, Jouven X, Empana JP, Frank R, Fontaine G. Natural history and risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation. 2004 Oct 5. 110(14):1879-84. [Medline].
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 May 15. 67(13):1153. [Medline].
Maron BJ, Carney KP, Lever HM, et al. Relationship of race to sudden cardiac death in competitive athletes with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2003 Mar 19. 41 (6):974-80. [Medline].
Muthappan P, Calkins H. Arrhythmogenic right ventricular dysplasia. Prog Cardiovasc Dis. 2008 Jul-Aug. 51(1):31-43. [Medline].
Morin DP, Mauer AC, Gear K, et al. Usefulness of precordial T-wave inversion to distinguish arrhythmogenic right ventricular cardiomyopathy from idiopathic ventricular tachycardia arising from the right ventricular outflow tract. Am J Cardiol. 2010 Jun 15. 105 (12):1821-4. [Medline]. [Full Text].
Gerlis LM, Schmidt-Ott SC, Ho SY, Anderson RH. Dysplastic conditions of the right ventricular myocardium: Uhl's anomaly vs arrhythmogenic right ventricular dysplasia. Br Heart J. 1993 Feb. 69(2):142-50. [Medline]. [Full Text].
Angelini A, Basso C, Nava A, Thiene G. Endomyocardial biopsy in arrhythmogenic right ventricular cardiomyopathy. Am Heart J. 1996 Jul. 132(1 Pt 1):203-6. [Medline].
Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation. 2010 Apr 6. 121 (13):1533-41. [Medline]. [Full Text].
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 Sep 21. 110 (12):1527-34. [Medline].
Marcus FI. Prevalence of T-wave inversion beyond V1 in young normal individuals and usefulness for the diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia. Am J Cardiol. 2005 May 1. 95(9):1070-1. [Medline].
Leclercq JF, Coumel P. Late potentials in arrhythmogenic right ventricular dysplasia. Prevalence, diagnostic and prognostic values. Eur Heart J. 1993 Sep. 14 suppl E:80-3. [Medline].
Kamath GS, Zareba W, Delaney J,et al. Value of the signal-averaged electrocardiogram in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart Rhythm. 2011 Feb. 8 (2):256-62. [Medline]. [Full Text].
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 Sep. 28(3):713-9. [Medline].
Focardi M, Cameli M, Carbone SF, et al. Traditional and innovative echocardiographic parameters for the analysis of right ventricular performance in comparison with cardiac magnetic resonance. Eur Heart J Cardiovasc Imaging. 2015 Jan. 16 (1):47-52. [Medline].
Kannan A, Poongkunran C, Jayaraj M, Janardhanan R. Role of strain imaging in right heart disease: a comprehensive review. J Clin Med Res. 2014 Oct. 6(5):309-13. [Medline]. [Full Text].
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 Dec. 36 (7):2226-33. [Medline].
Yoerger DM, Marcus F, Sherrill D, et al, for the Multidisciplinary Study of Right Ventricular Dysplasia Investigators. 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 Mar 15. 45 (6):860-5. [Medline].
Satoh H, Sano M, Suwa K, et al. Distribution of late gadolinium enhancement in various types of cardiomyopathies: Significance in differential diagnosis, clinical features and prognosis. World J Cardiol. 2014 Jul 26. 6 (7):585-601. [Medline]. [Full Text].
Tandri H, Macedo R, Calkins H, et al, for the Multidisciplinary Study of Right Ventricular Dysplasia Investigators. Role of magnetic resonance imaging in arrhythmogenic right ventricular dysplasia: insights from the North American arrhythmogenic right ventricular dysplasia (ARVD/C) study. Am Heart J. 2008 Jan. 155 (1):147-53. [Medline].
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 Dec 5. 48 (11):2277-84. [Medline].
Jacquier A, Bressollette E, Laissy JP, et al. [MR imaging and arrhythmogenic right ventricular dysplasia (ARVD)] [French]. J Radiol. 2004 Jun. 85 (6 Pt 1):721-4. [Medline].
Jain A, Tandri H, Calkins H, Bluemke DA. Role of cardiovascular magnetic resonance imaging in arrhythmogenic right ventricular dysplasia. J Cardiovasc Magn Reson. 2008 Jun 20. 10:32. [Medline]. [Full Text].
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 Jan 4. 45 (1):98-103. [Medline].
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 Nov. 29 (22):2760-71. [Medline].
Rastegar N, Te Riele AS, James CA, et al. Fibrofatty changes: incidence at cardiac MR imaging in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Radiology. 2016 Aug. 280 (2):405-12. [Medline].
Jain A, Shehata ML, Stuber M, et al. Prevalence of left ventricular regional dysfunction in arrhythmogenic right ventricular dysplasia: a tagged MRI study. Circ Cardiovasc Imaging. 2010 May. 3 (3):290-7. [Medline]. [Full Text].
Bourfiss M, Prakken NHJ, van der Heijden JF, et al. Diagnostic value of native T1 mapping in arrhythmogenic right ventricular cardiomyopathy [letter]. JACC Cardiovasc Imaging. 2019 Aug. 12 (8 pt 1):1580-2. [Medline]. [Full Text].
Daliento L, Rizzoli G, Thiene G, et al. Diagnostic accuracy of right ventriculography in arrhythmogenic right ventricular cardiomyopathy. Am J Cardiol. 1990 Sep 15. 66 (7):741-5. [Medline].
Boulos M, Lashevsky I, Reisner S, Gepstein L. Electroanatomic mapping of arrhythmogenic right ventricular dysplasia. J Am Coll Cardiol. 2001 Dec. 38 (7):2020-7. [Medline].
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 Nov. 19 (11):1127-34. [Medline].
Awad MM, Calkins H, Judge DP. Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat Clin Pract Cardiovasc Med. 2008 May. 5 (5):258-67. [Medline]. [Full Text].
Cowan J, Morales A, Dagua J, Hershberger RE. Genetic testing and genetic counseling in cardiovascular genetic medicine: overview and preliminary recommendations. Congest Heart Fail. 2008 Mar-Apr. 14(2):97-105. [Medline].
Sen-Chowdhry S, Syrris P, McKenna WJ. Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol. 2007 Nov 6. 50(19):1813-21. [Medline].
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 Jun 14. 123 (23):2701-9. [Medline].
Gene Tests. ARVC tests. Available at http://www.genetests.org/. Accessed: Sept. 12, 2014.
Asimaki A, Tandri H, Huang H, et al. A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. N Engl J Med. 2009 Mar 12. 360 (11):1075-84. [Medline].
Basso C, Czarnowska E, Della Barbera M, et al. Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies. Eur Heart J. 2006 Aug. 27 (15):1847-54. [Medline].
[Guideline] 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 Dec 7. 36 (46):3227-37. [Medline].
[Guideline] 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. J Am Coll Cardiol. 2008 May 27. 51(21):e1-62. [Medline].
Calkins H. Arrhythmogenic right ventricular dysplasia/cardiomyopathy-three decades of progress. Circ J. 2015. 79 (5):901-13. [Medline].
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 Feb 1. 45 (3):400-8. [Medline]. [Full Text].
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 Sep 21. 122 (12):1144-52. [Medline].
Wichter T, Borggrefe M, Haverkamp W, Chen X, Breithardt G. Efficacy of antiarrhythmic drugs in patients with arrhythmogenic right ventricular disease. Results in patients with inducible and noninducible ventricular tachycardia. Circulation. 1992 Jul. 86(1):29-37. [Medline].
Marcus GM, Glidden DV, Polonsky B, et al, for the Multidisciplinary Study of Right Ventricular Dysplasia Investigators. Efficacy of antiarrhythmic drugs in arrhythmogenic right ventricular cardiomyopathy: a report from the North American ARVC Registry. J Am Coll Cardiol. 2009 Aug 11. 54 (7):609-15. [Medline].
Rigato I, Corrado D, Basso C, et al. Pharmacotherapy and other therapeutic modalities for managing arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Drugs Ther. 2015 Apr. 29 (2):171-7. [Medline].
Fontaine G, Tonet J, Gallais Y, et al. Ventricular tachycardia catheter ablation in arrhythmogenic right ventricular dysplasia: a 16-year experience. Curr Cardiol Rep. 2000 Nov. 2 (6):498-506. [Medline].
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 Jun 21. 111 (24):3209-16. [Medline].
[Guideline] 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 Jan 22. 61(3):e6-75. [Medline].