Arrhythmogenic Right Ventricular Cardiomyopathy

Key points

• Inherited (autosomal dominant, variable expression); ~50% have a desmosome gene mutation; RV myocardium replaced by fatty and fibrofatty tissue
• Second most common cause of sudden cardiac death in the young after hypertrophic cardiomyopathy
• Presentation: palpitations · syncope · sudden cardiac death
• ECG: V1-3 T-wave inversion; epsilon wave (terminal QRS notch) in ~50% · echo: enlarged hypokinetic RV with thin free wall · MRI shows fibrofatty tissue
• Management: sotalol (most widely used antiarrhythmic) · catheter ablation to prevent VT · implantable cardioverter-defibrillator · Naxos disease = AR variant with ARVC, palmoplantar keratosis and woolly hair