Catecholaminergic Polymorphic Ventricular Tachycardia

Key points

• Form of inherited cardiac disease associated with sudden cardiac death; inherited in an autosomal dominant fashion with a prevalence of around 1:10,000
• Most common cause is a defect in the ryanodine receptor (RYR2) found in the myocardial sarcoplasmic reticulum — not a potassium channel defect
• Features: exercise- or emotion-induced polymorphic ventricular tachycardia resulting in syncope; sudden cardiac death
• Symptoms generally develop before the age of 20 years
• Management: beta-blockers; implantable cardioverter-defibrillator