Background
- Autosomal dominant condition characterised by abnormal cardiac proteins (potentially desmosomal proteins) which causes breakdown of the hear muscle and replacement with fibrous/fatty tissue
- Usually affects the right side but can affect both
- Uncommon 1:2000
- These patients are at increased risk of ventricular arrhythmias, sudden death (serious cause of sudden death in <35 year group- and accounting for around 20% of sudden cardiac deaths) and right heart failure
Pathogenesis
- Four phases
- Concealed phase
- Small changes to the right side of the heart. Patients are asymptomatic
- Overt phase
- Symptomatic right ventricular arrhytmias associated with functional and structural changes
- Right heart strain/failure
- Disease affecting the entire right ventricle
- Left ventricular impairment
- Concealed phase
Presentation
- Usually presents in young adult males
- Occasionally, patients may present with symptoms such as
- Arrhythmias e.g. syncope, palpitations, light-headedness/dizziness
- Shortness of breath
- Leg swelling/abdominal distention/ascites (Right heart strain)
- Unfortunately, many patients are asymptomatic until sudden cardiac death (diagnosis made at autopsy)
Investigations
- ECG may show a slightly broad QRS complex and inverted T waves in the right precordial leads (II < III; V1 > V2)
- Left bundle branch block is common
- ECHO and MRI scans can confirm the diagnosis (fatty deposits seen on MRI)
Management
- Implantable defibrillator is an option for patients at risk of sudden death (drug treatments such as sotalol or amiodarone + beta blocker may help)