Arrhythmogenic Right Ventricular Cardiomyopathy

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
Additional Information

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.

DiagnosisTop

Diagnostic Tests

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.

Diagnostic Criteria

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.

Differential Diagnosis

ARVC should be differentiated from idiopathic left ventricular outflow tract ventricular tachycardia, Brugada syndrome, Uhl anomaly, right ventricular myocardial infarction, and dilated cardiomyopathy.

TreatmentTop

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.Evidence 1Strong 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.

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