Arrhythmogenic right ventricular cardiomyopathy
Updates to Article Attributes
Arrhythmogenic right ventricular dysplasiacardiomyopathy (ARVD(ARVC) is, 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.
Epidemiology
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 ARVDARVC of about 30-50%, with mainly autosomal dominant inheritance, various penetrance, and polymorphic phenotypic expression.
Clinical presentation
ARVDARVC 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.
Associations
- as the name implies this is associated with fatal arrhythmias and sudden cardiac death
- other non fatal 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 arrthymogenic right ventricular dysplasiacarrdiomyopathy2.
Pathology
Two morphologic variants of ARVDARVC 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.
Radiographic features
Plain radiograph
Chest radiographic findings are non-specific and can often be normal. May show evidence of right ventricular dilatation (best seen on a lateral view).
Echocardiography
The right ventricle is often dilated and hypokinetic.
MRI
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. ARVDARVC 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. ARVDARVC 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
CT
May show right ventricular dilation and fatty low attenuation to the right ventricular wall.
Treatment and prognosis
ARVDARVC 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 ARVDARVC include antiarrhythmic agents, catheter ablation, implantable cardioverter defibrillators, and surgery.
Differential diagnosis
Imaging differential considerations include:
- large right ventricular infarction
- idiopathic dilated cardiomyopathy
-
Uhl anomaly
- paper-thin right ventricle due to almost complete absence of myocardial muscle fibers
- no gender predilection or familial occurrence
-<p><strong>Arrhythmogenic right ventricular dysplasia</strong> <strong>(ARVD)</strong> is classified as a type of <a href="/articles/cardiomyopathy-classification-whoisfc-1995">cardiomyopathy</a>. It is seen particularly in young males, and is one of the more common causes of sudden death in these patients. </p><h4>Epidemiology</h4><p>The estimated population prevalence is thought to range around 1 in 1000-5000 <sup>8</sup>. 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 ARVD of about 30-50%, with mainly autosomal dominant inheritance, various penetrance, and polymorphic phenotypic expression.</p><h4>Clinical presentation</h4><p>ARVD 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. </p><h5>Associations</h5><ul>- +<p><strong>Arrhythmogenic right ventricular cardiomyopathy </strong><strong>(ARVC)</strong>, also referred to as <strong>arrhythmogenic right ventricular dysplasia </strong>or simply <strong>arrhythmogenic cardiomyopathy</strong>, is classified as a type of <a href="/articles/cardiomyopathy-whoisfc-1995-classification">cardiomyopathy</a>. It is seen particularly in young males, and is one of the more common causes of sudden death in these patients. </p><h4>Epidemiology</h4><p>The estimated population prevalence is thought to range around 1 in 1000-5000 <sup>8</sup>. 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.</p><h4>Clinical presentation</h4><p>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. </p><h5>Associations</h5><ul>
-</ul><p>Diagnosis is based on the presence of structural, histologic, electrocardiographic, arrhythmic, and genetic factors <sup>4</sup>. This involves a combination of characteristic abnormalities in family history, electrocardiography, cardiac imaging as well as endomyocardial biopsy. </p><p>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 <a href="/articles/diagnostic-criteria-for-arrthymogenic-right-ventricular-dysplasia">diagnostic criteria for arrthymogenic right ventricular dysplasia</a> <sup>2</sup>. </p><h4>Pathology</h4><p>Two morphologic variants of ARVD have been reported: fatty and fibrofatty.</p><p>The fatty form is characterized by almost complete replacement of the myocardium without thinning of the ventricular wall, and it occurs exclusively in the <a title="Right ventricle" href="/articles/right-ventricle">right ventricle</a>.</p><p>The fibro-fatty variant is associated with significant thinning of the right ventricular wall, and the left ventricular myocardial wall may also be involved <sup>1-2</sup>.</p><p>Both idiopathic and familial aetiologies have been proposed (see epidemiology above) <sup>2</sup>. </p><p>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.</p><h4>Radiographic features</h4><h5>Plain radiograph</h5><p>Chest radiographic findings are non-specific and can often be normal. May show evidence of right ventricular dilatation (best seen on a lateral view).</p><h5>Echocardiography</h5><p>The right ventricle is often dilated and hypokinetic.</p><h5>MRI</h5><p>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 <strong>T1</strong>) in normal individuals <sup>3</sup>. ARVD 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 <sup>9</sup>. ARVD 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 <sup>6</sup>). <a href="/articles/steady-state-free-precession-mri-2">SSFP</a> sequences may provide additional information on functional wall impairment. </p><p>Other associated features include:</p><ul>- +</ul><p>Diagnosis is based on the presence of structural, histologic, electrocardiographic, arrhythmic, and genetic factors <sup>4</sup>. This involves a combination of characteristic abnormalities in family history, electrocardiography, cardiac imaging as well as endomyocardial biopsy. </p><p>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 <a href="/articles/diagnostic-criteria-for-arrthymogenic-right-ventricular-dysplasia">diagnostic criteria for arrthymogenic right ventricular carrdiomyopathy</a> <sup>2</sup>. </p><h4>Pathology</h4><p>Two morphologic variants of ARVC have been reported: fatty and fibrofatty.</p><p>The fatty form is characterized by almost complete replacement of the myocardium without thinning of the ventricular wall, and it occurs exclusively in the <a href="/articles/right-ventricle">right ventricle</a>.</p><p>The fibro-fatty variant is associated with significant thinning of the right ventricular wall, and the left ventricular myocardial wall may also be involved <sup>1-2</sup>.</p><p>Both idiopathic and familial aetiologies have been proposed (see epidemiology above) <sup>2</sup>. </p><p>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.</p><h4>Radiographic features</h4><h5>Plain radiograph</h5><p>Chest radiographic findings are non-specific and can often be normal. May show evidence of right ventricular dilatation (best seen on a lateral view).</p><h5>Echocardiography</h5><p>The right ventricle is often dilated and hypokinetic.</p><h5>MRI</h5><p>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 <strong>T1</strong>) in normal individuals <sup>3</sup>. 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 <sup>9</sup>. 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 <sup>6</sup>). <a href="/articles/steady-state-free-precession-mri-2">SSFP</a> sequences may provide additional information on functional wall impairment. </p><p>Other associated features include:</p><ul>
-</ul><h5>CT</h5><p>May show right ventricular dilation and fatty low attenuation to the right ventricular wall.</p><h4>Treatment and prognosis</h4><p>ARVD is a progressive disease and will probably lead to right ventricular failure in the long term unless sudden cardiac death occurs beforehand.</p><p>The four therapeutic options in patients with ARVD include antiarrhythmic agents, catheter ablation, implantable cardioverter defibrillators, and surgery.</p><h4>Differential diagnosis</h4><p>Imaging differential considerations include:</p><ul>- +</ul><h5>CT</h5><p>May show right ventricular dilation and fatty low attenuation to the right ventricular wall.</p><h4>Treatment and prognosis</h4><p>ARVC is a progressive disease and will probably lead to right ventricular failure in the long term unless sudden cardiac death occurs beforehand.</p><p>The four therapeutic options in patients with ARVC include antiarrhythmic agents, catheter ablation, implantable cardioverter defibrillators, and surgery.</p><h4>Differential diagnosis</h4><p>Imaging differential considerations include:</p><ul>