Arrhythmogenic right ventricular cardiomyopathy

Question 1

What is arrhythmogenic right ventricular cardiomyopathy?

Answer 1

• inherited cardiovascular disease which may present with syncope or sudden cardiac death
• second most common cause of sudden cardiac death in the young after hypertrophic cardiomyopathy

Question 2

What is the pathophysiology of arrhythmogenic right ventricular cardiomyopathy?

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

What is the presentation of arrhythmogenic right ventricular cardiomyopathy?

Answer 3

• palpitations
• syncope
• sudden cardiac death

Question 4

What investigations are needed in arrhythmogenic right ventricular cardiomyopathy?

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

What is the management of arrhythmogenic right ventricular cardiomyopathy?

Answer 5

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

Question 6

What is naxos disease?

Answer 6

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