Overview

Also known as arrhythmogenic right ventricular dysplasia (ARVD), arrhythmogenic right ventricular cardiomyopathy (ARVC), is an inherited genetic disorder of the myocardium. It is considered the next most common cause of sudden cardiac death in young people after hypertrophic obstructive cardiomyopathy.

ARVC is inherited in an autosomal dominant pattern with variable penetrance and leads to the replacement of the myocardium with fatty and fibrofatty tissue.

Epidemiology

  • Prevalence is around 1/2500 to 1/5000
  • More common in men

Risk Factors

  • Family history of sudden cardiac death

Presentation

Patients may present with:

Investigations

  • ECG:
    • May show T-wave inversion in leads V1-V3
    • May show an epsilon wave (small peak at the end of the QRS complex)
  • Echocardiogram:
    • May show right ventricular dilation and/or right ventricular aneurysms with a thin wall
  • NT-proBNP:
    • May be elevated
  • Cardiac MRI:
    • Identifies fibrofatty tissue

Differential Diagnoses

Hypertrophic obstructive cardiomyopathy (HOCM)

  • Although both can present similarly, an ECG in HOCM does not show epsilon waves and echocardiography shows features remembered with MR SAM ASH:
    • Mitral regurgitation (MR)
    • Systolic anterior motion (SAM) of the anterior mitral valve leaflet
    • Asymmetric hypertrophy (ASH)

Management

Overview

Sotalol is a beta-blocker and class III antiarrhythmic used in ARVC. Other aspects of management include radiofrequency catheter ablation for refractory ventricular tachycardia and an implantable cardiac defibrillator to reduce the risk of sudden death.

Complications

Author