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 presentation
Most patients are symptomatic
When present, symptoms include symptomatic ventricular arrhythmia, syncope, or sudden death
Investigations
ECG - usually normal
Imaging - echo, cardiac MRI
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
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