Chapter: Arrhythmogenic Right Ventricular Cardiomyopathy
McMaster Section Editor(s): P.J. Devereaux
Section Editor(s) in Interna Szczeklika: Andrzej Budaj, Wiktoria Leśniak
McMaster Author(s): Harriette G.C. Van Spall, Shoeb Ahsan
Author(s) in Interna Szczeklika: Jan Wodniecki, Wiktoria Leśniak
How to Cite This Chapter: Van Spall HGC, Ahsan S, Wodniecki J, Leśniak W. Arrhythmogenic Right Ventricular Cardiomyopathy . McMaster Textbook of Internal Medicine. Kraków: Medycyna Praktyczna. https://empendium.com/mcmtextbook/chapter/B31.II.2.16.4 Accessed November 17, 2019.
Last Updated: July 17, 2017
Last Reviewed: April 27, 2019
Main Documents Taken Into Account:
Bozkurt B, Colvin M, Cook J, et al; American Heart Association Committee on Heart Failure and Transplantation of the Council on Clinical Cardiology; Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; Council on Epidemiology and Prevention; and Council on Quality of Care and Outcomes Research. Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association.
Circulation. 2016 Dec 6;134(23):e579-e646. Epub 2016 Nov 3. Erratum in: Circulation. 2016 Dec 6;134(23):e652. PubMed PMID: 27832612.
WRITING COMMITTEE MEMBERS, Yancy CW, Jessup M, Bozkurt B, et al. 2016 ACC/AHA/HFSA Focused Update on New Pharmacological Therapy for Heart Failure: An Update of the 2013 ACCF/AHA Guideline for the Management of Heart Failure: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Failure Society of America.
Circulation. 2016 Sep 27;134(13):e282-93. doi: 10.1161/CIR.0000000000000435. Epub 2016 May 20. Erratum in: Circulation. 2016 Sep 27;134(13):e298. PubMed PMID: 27208050.
Ponikowski P, Voors AA, Anker SD, et al; Authors/Task Force Members. 2016 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure: The Task Force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC). Developed with the special contribution of the Heart Failure Association (HFA) of the ESC.
Eur Heart J. 2016 Jul 14;37(27):2129-200. doi: 10.1093/eurheartj/ehw128. Epub 2016 May 20. Erratum in: Eur Heart J. 2016 Dec 30. PubMed PMID: 27206819.
Hilfiker-Kleiner D, Haghikia A, Nonhoff J, Bauersachs J. Peripartum cardiomyopathy: current management and future perspectives.
Eur Heart J. 2015 May 7;36(18):1090-7. doi: 10.1093/eurheartj/ehv009. Epub 2015 Jan 29. Review. PubMed PMID: 25636745; PubMed Central PMCID: PMC4422973.
Authors/Task Force members, Elliott PM, Anastasakis A, Borger MA, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
Eur Heart J. 2014 Oct 14;35(39):2733-79. doi: 10.1093/eurheartj/ehu284. Epub 2014 Aug 29. PubMed PMID: 25173338.
Rapezzi C, Arbustini E, Caforio AL, et al. Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases.
Eur Heart J. 2013 May;34(19):1448-58. doi: 10.1093/eurheartj/ehs397. Epub 2012 Dec 4. PubMed PMID: 23211230.
Gersh BJ, Maron BJ, Bonow RO, et al; American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines; American Association for Thoracic Surgery; American Society of Echocardiography; American Society of Nuclear Cardiology; Heart Failure Society of America; Heart Rhythm Society; Society for Cardiovascular Angiography and Interventions; Society of Thoracic Surgeons. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines.
Circulation. 2011 Dec 13;124(24):2761-96. doi: 10.1161/CIR.0b013e318223e230. Epub 2011 Nov 8. PubMed PMID: 22068435.
Charron P, Arad M, Arbustini E, et al; European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.
Eur Heart J. 2010 Nov;31(22):2715-26. doi: 10.1093/eurheartj/ehq271. Epub 2010 Sep 7. PubMed PMID: 20823110.
Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases.
Eur Heart J. 2008 Jan;29(2):270-6. Epub 2007 Oct 4. PubMed PMID: 17916581.
Maron BJ, Towbin JA, Thiene G, et al; American Heart Association; Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; Council on Epidemiology and Prevention. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention.
Circulation. 2006 Apr 11;113(14):1807-16. Epub 2006 Mar 27. PubMed PMID: 16567565.
Definition, Etiology, PathogenesisTop
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disease involving mainly the right ventricle. It is caused by the gradual replacement of myocardial fibers by fatty and fibrous tissue, particularly in the right ventricular inflow, outflow, and apex, which leads to a propensity to ventricular arrhythmias and sudden cardiac death. Morphologic and functional changes can also occur in the left ventricle (LV), producing a phenotype similar to dilated cardiomyopathy.
Causes: Gene mutations, which are usually autosomal dominant.
Clinical Features and Natural HistoryTop
1. History: ARVC usually presents in young adult men. The first symptom is a brief loss of consciousness caused by ventricular arrhythmia. Sudden cardiac death may occur.
2. Risk factors of sudden cardiac death include a young age, history of syncope, cardiac arrest or hemodynamically significant ventricular tachycardia, LV involvement, significant right ventricular damage, sudden cardiac death in a relative aged <35 years, and an epsilon wave on electrocardiography (ECG).
3. Symptoms include palpitations, dizziness, and presyncope or syncope. In more advanced disease, features of right ventricular heart failure develop.
1. ECG: Findings may be transient or invoked upon stress. They may reveal right bundle branch block (RBBB), inverted T waves in right precordial leads, QRS widening >110 milliseconds in leads V1 to V3 and III, S-wave widening >50 milliseconds in leads V1 to V3, and an epsilon wave on the descending arm of the QRS complex (this feature is found only in a quarter of patients and is almost pathognomonic for ARVC). Ventricular arrhythmia with LBBB morphology of the QRS complex is frequently seen.
2. Echocardiography reveals impaired right ventricular wall motion and enlargement of the right ventricle.
3. Magnetic resonance imaging (MRI) reveals fatty infiltrates and focal fibrosis in the right ventricular wall. This study is of limited value in the diagnosis of ARVC because of high rates of false-positive results.
ARVC is diagnosed on the basis of imaging studies and the presence of severe ventricular arrhythmia. Endomyocardial biopsy is rarely performed because of its low sensitivity.
ARVC should be differentiated from idiopathic left ventricular outflow tract ventricular tachycardia, Brugada syndrome, Uhl anomaly, right ventricular myocardial infarction, and dilated cardiomyopathy.
1. Symptomatic treatment targets arrhythmia and includes mainly sotalol, beta-blockers, or amiodarone. Agents and dosage: see Table 3.4-2.
2. Radiofrequency ablation is used in case of intolerance or ineffectiveness of antiarrhythmic agents in patients with life-threatening arrhythmia.
3. Implantable cardioverter-defibrillators (ICDs) are used to prevent sudden cardiac death in patients with severe ventricular arrhythmia and syncope and in patients with a family history of sudden cardiac death.Strong recommendation (benefits clearly outweigh downsides; right action for all or almost all patients). Low Quality of Evidence (low confidence that we know true effects of the intervention). Quality of Evidence lowered due to the observational nature of data. Klein GJ, Krahn AD, Skanes AC, Yee R, Gula LJ. Primary prophylaxis of sudden death in hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, and dilated cardiomyopathy. J Cardiovasc Electrophysiol. 2005 Sep;16 Suppl 1:S28-34. Review. PubMed PMID: 16138882.