Arrhythmogenic right ventricular cardiomyopathy

Question 1

Arrhythmogenic right ventricular cardiomyopathy (ARVC, also known as arrhythmogenic right ventricular dysplasia or ARVD)?

Answer 1

• 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.

Question 2

Pathophysiology?

Answer 2

• 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

Question 3

Presentation?

Answer 3

• palpitations
• syncope
• sudden cardiac death

Question 4

Investigation?

Answer 4

• 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

Question 5

Management?

Answer 5

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

Question 6

Naxos disease?

Answer 6

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