Uncommon inherited condition that predominantly affects the right ventricle with fatty or fibro-fatty replacement of myocytes, leading to segmental or global dilation

Aetiology

• Autosomal dominant and autosomal recessive forms have been identified, mutations mostly involve desmosomal genes

Pathophysiology

• Fibro-fatty replacement of cardiomyocytes in right ventricle
• LV involvement in >50% of cases

Clinical features

• Most patients are asymptomatic
• When present, symptoms include symptomatic ventricular arrhythmia, syncope, or sudden death

Investigations

• ECG: usually normal, occasionally changes such as T-wave inversion in the precordial leads and complete right bundle branch block may be seen
• Echocardiogram: frequently normal but with more advanced cases may demonstrate right ventricular dilation and aneurysm formation
• Cardiac MRI: can assess the right ventricle more accurately and in some cases can demonstrate fibro-fatty infiltration
• Genetic testing

Management

• β-blockers are first-line treatment for patients with non-life-threatening arrhythmias
• Amiodarone or sotalol is used for symptomatic arrhythmias
• For refractory or life-threatening arrhythmias an ICD is required