Arrhythmogenic right ventricular cardiomyopathy (ARVC) or

Arrhythmogenic Right Ventricular Dysplasia (ARVD)

Arrhythmogenic right ventricular cardiomyopathy (ARVC, also known as arrhythmogenic right ventricular dysplasia or ARVD) is a form of inherited cardiovascular disease which may present with syncope or sudden cardiac death. It is generally regarded as the second most common cause of sudden cardiac death in the young after hypertrophic cardiomyopathy.

Pathophysiology

• inherited in an autosomal dominant pattern with variable expression
• the right ventricular myocardium is replaced by fatty and fibrofatty tissue
• around 50% of patients have a mutation of one of the several genes which encode components of desmosome

Presentation

• ARVD causes symptoms due to ventricular ectopic beats or sustained VT (with LBBB morphology), and typically presents with palpitations, syncope or cardiac arrest precipitated by exercise

Investigation

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ECG Features:

• T wave inversion in right precordial leads V1-3, in absence of RBBB (85% of patients)
• Epsilon wave (most specific finding, seen in 50% of patients) best described as a terminal notch in the QRS complex
• Localised QRS widening in V1-3 (> 110ms)
• Prolonged S wave upstroke of 55ms in V1-3
• Ventricular ectopy of LBBB morphology, with frequent PVCs > 1000 per 24 hours
• Paroxysmal episodes of ventricular tachycardia (VT) with LBBB morphology (RVOT tachycardia </aside>

Epsilon wave in V1, due to RV conduction delay

Prolonged S-wave upstroke in V2 with localized QRS widening

Note: Some authors recommend recording ECG rhythm strips at double speed (50 mm/second) and double amplitude (20mV/10mm) to enhance the detection of some of these features

• echo changes are often subtle in the early stages but may show an enlarged, hypokinetic right ventricle with a thin free wall
• magnetic resonance imaging is useful to show fibrofatty tissue

Management

• drugs: sotalol is the most widely used antiarrhythmic
• catheter ablation to prevent ventricular tachycardia
• implantable cardioverter-defibrillator