Arrhythmogenic right ventricular cardiomyopathy

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

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)
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