Arrhythmogenic right ventricular cardiomyopathy (ARVC), also referred to as arrhythmogenic right ventricular dysplasia or simply arrhythmogenic cardiomyopathy, is classified as a type of cardiomyopathy. It is seen particularly in young males and is one of the more common causes of sudden death in these patients.
The estimated population prevalence is thought to range around 1 in 1000-5000 8. It typically presents in young individuals. There is a recognised male predilection, with a male-to-female ratio of 2.7:1. Several reports suggest that there is a familial occurrence of ARVC of about 30-50%, with mainly autosomal dominant inheritance, various penetrance, and polymorphic phenotypic expression.
ARVC is characterised clinically by ventricular arrhythmias with left bundle branch block (LBBB) that may lead to cardiac arrest. As such, it may present as a sudden onset collapse or syncopal episode and should be a consideration in a young fit individual with such a presentation.
- as the name implies this is associated with fatal arrhythmias and sudden cardiac death
- other nonfatal arrhythmias include
- left bundle branch block: LBBB
- ventricular tachycardia
Diagnosis is based on the presence of structural, histologic, electrocardiographic, arrhythmic, and genetic factors 4. This involves a combination of characteristic abnormalities in family history, electrocardiography, cardiac imaging as well as endomyocardial biopsy.
Diagnostic criteria have also been developed, of which patients must have either two major criteria, one major and two minor criteria, or four minor criteria. See diagnostic criteria for arrhythmogenic right ventricular cardiomyopathy 2.
Two morphologic variants of ARVC have been reported: fatty and fibrofatty.
The fatty form is characterized by almost complete replacement of the myocardium without thinning of the ventricular wall, and it occurs exclusively in the right ventricle.
The fibro-fatty variant is associated with significant thinning of the right ventricular wall, and the left ventricular myocardial wall may also be involved 1-2.
Both idiopathic and familial aetiologies have been proposed (see epidemiology above) 2.
As the name implies, it classically involves the right ventricle although, on autopsy studies, a sizeable number of cases also show a degree of left ventricular involvement.
Chest radiographic findings are non-specific and can often be normal. May show evidence of right ventricular dilatation (best seen on a lateral view).
The right ventricle is often dilated and hypokinetic.
Most sensitive imaging modality for diagnosis although image interpretation can still be difficult due to a degree of RV wall focal fatty infiltration (high signal on T1) in normal individuals 3. ARVC classically demonstrates fibro-fatty deposition in the right ventricular free wall, although this is not currently considered a part of the major or minor diagnostic criteria 9. ARVC also classically shows morphological features of right ventricular dilation and the ventricular wall may be thinned as a result. The left ventricle is usually spared (except in a very small proportion of cases 6). SSFP sequences may provide additional information on functional wall impairment.
Other associated features include:
- right ventricular aneurysm formation
- diffuse right ventricular wall thinning resulting in severe global dilatation
- segmental hypokinesia
May show right ventricular dilation and fatty low attenuation to the right ventricular wall.
Treatment and prognosis
ARVC is a progressive disease and will probably lead to right ventricular failure in the long term unless sudden cardiac death occurs beforehand.
The four therapeutic options in patients with ARVC include antiarrhythmic agents, catheter ablation, implantable cardioverter defibrillators, and surgery.
Imaging differential considerations include:
- 1. Fisher NG, Gilbert TJ. Arrhythmogenic right ventricular dysplasia. An illustrated review highlighting developments in the diagnosis and management of this potentially fatal condition. Postgrad Med J. 2000;76 (897): 395-8. Free text at pubmed - Pubmed citation
- 2. Kayser HW, Van der wall EE, Sivananthan MU et-al. Diagnosis of arrhythmogenic right ventricular dysplasia: a review. Radiographics. 22 (3): 639-48. Radiographics (full text) - Pubmed citation
- 3. Camm CF, James CA, Tichnell C et-al. The prevalence of atrial arrhythmias in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. Heart Rhythm. 2013; . doi:10.1016/j.hrthm.2013.08.032 - Pubmed citation
- 4. 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 (3): 215-8. Br Heart J (link) - Free text at pubmed - Pubmed citation
- 5. van der Wall EE, Kayser HW, Bootsma MM et-al. Arrhythmogenic right ventricular dysplasia: MRI findings. Herz. 2000;25 (4): 356-64. Pubmed citation
- 6. Calkins H. Arrhythmogenic right ventricular dysplasia. Curr Probl Cardiol. 2013;38 (3): 103-23. doi:10.1016/j.cpcardiol.2012.12.002 - Pubmed citation
- 7. Azaouagh A, Churzidse S, Konorza T et-al. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update. Clin Res Cardiol. 2011;100 (5): 383-94. doi:10.1007/s00392-011-0295-2 - Pubmed citation
- 8. Murphy DT, Shine SC, Cradock A et-al. Cardiac MRI in arrhythmogenic right ventricular cardiomyopathy. AJR Am J Roentgenol. 2010;194 (4): W299-306. doi:10.2214/AJR.09.3450 - Pubmed citation
- 9. 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 (13): 1533-41. doi:10.1161/CIRCULATIONAHA.108.840827 - Free text at pubmed - Pubmed citation