Arrhythmogenic right ventricular cardiomyopathy

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

• palpitations
• syncope
• sudden cardiac death

Investigation

• ECG abnormalities in V1-3, typically T wave inversion. An epsilon wave is found in about 50% of those with ARV - this is best described as a terminal notch in the QRS complex
• 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

Naxos disease

• an autosomal recessive variant of ARVC
• a triad of ARVC, palmoplantar keratosis, and woolly hair