Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy is an inherited desmosomal disease in which right ventricular myocardium is progressively replaced by fibrofatty tissue, causing ventricular arrhythmias and sudden death, especially in young athletes. Diagnosis uses combined task-force criteria, and management is exercise restriction, beta-blockade or antiarrhythmics, and an ICD for high-risk patients.
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What this article covers
- Overview
Definition: arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy in which the right ventricular myocardium is progressively replaced by fibrofatty tissue, creating a substrate for ventricular arrhythmias.
- Epidemiology
Presents in adolescence and young adulthood.
- Risk factors
Desmosomal gene mutations (PKP2 most common, and others) and family history.
- Pathophysiology
Desmosomal dysfunction: impaired cell-cell adhesion leads to myocyte detachment and death under mechanical stress.
- Clinical features
Palpitations and ventricular arrhythmias (often with left bundle branch block morphology).
- Differential diagnosis
Idiopathic right ventricular outflow tract VT: monomorphic VT with left bundle branch block morphology, distinguished from ARVC by a structurally normal right ventricle on MRI and the absence of…
- Diagnosis
Establish with combined task-force criteria integrating imaging, ECG, arrhythmia, tissue, and genetics: the diagnostic basis is the revised task-force criteria combining right ventricular structural…
- Management
First-line, restrict exercise and start a beta-blocker: advise against competitive and endurance exercise (a disease-modifying step) and give a beta-blocker (for example metoprolol 50 to 100 mg PO…
- Complications
Sustained ventricular tachycardia and sudden cardiac death.
- Prognosis
Variable, driven by arrhythmia risk and ventricular dysfunction.
- Prevention
Exercise restriction in affected patients and gene carriers.
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