Arrhythmogenic right ventricular dysplasia

Background

  • Second most common cause of sudden cardiac death in young patients [1]
    • Up to 20% of sudden cardiac deaths in young people
  • Usually occurs in people of Greek or Italian descent
  • Male:Female = 3:1
  • 1:1000-10,000 in the US
  • Fibro-fatty replacement of right ventricular myocardium
  • Two forms:
    • Autosomal dominant
      • Variable penetrance
    • Autosomal recessive
      • Naxos disease (Palmoplantar keratoderma) [2]

Clinical Features

  • Palpitations (27%)
  • Syncope (26%)
  • Ventricular dysrhythmia/cardiac arrest (23%)
    • Especially occurring during exercise
  • Family history of unexplained syncope or sudden death
  • Dysrhythmias refractory to anti-dysrhythmic meds
  • Asymptomatic (40%)
    • Usually these patients are identified through genetic testing of an affected or symptomatic family member
  • Right ventricular failure (6%)
  • Dilated cardiomyopathy
  • Dyspnea
  • Atypical chest pain (6%)

Differential Diagnosis

Cardiomyopathy

Syncope Causes

T Wave Inversions

Evaluation

ECG

ARVD.png

  • Epsilon wave
    • Seen in 30-50% of cases
    • Most specific finding
    • Small positive deflection at the end of the QRS complex
  • V1-V3 T wave inversions
    • Seen in 85% of cases
    • Especially in patients >14 yrs old)
  • Localised QRS widening
    • 110 ms in V1-V3
  • Sudden VT episodes with LBBB morphology
  • Prolonged S-wave upstroke
    • 55 ms in V1-3
    • Seen in 95% of cases

Imaging

Major and minor criteria rely on echo and cardiac MRI

  • Echo
    • Hypokinetic and dilated right ventricle
    • Dilation of RVOT
  • Cardiac MRI [3]
    • Fibro-fatty infiltration
    • Thinning of right ventricular myocardium
    • RV aneurysm
    • RV dilatation
    • Regional wall motion abnormalities
    • Global systolic dysfunction
  • Histological studies provide post-mortem diagnosis
    • May prompt testing in family members

Management

  • Beta blockers or amiodarone to suppress ventricular dysrhythmias
    • Sotalol is preferred
  • ICD implantation if high-risk features
  • Ablation of conduction pathways
  • Treat heart failure with diuretics, ACE inhibitors
  • Heart transplant

Disposition

  • Admission under cardiology if symptomatic
  • Admission under cardiology if high-risk features[4]:
    • Syncope due to cardiac arrest
    • Recurrent dysrhythmias not suppressed by drug therapy
    • Cardiac arrest in first-degree relative
  • Incidental finding: Cardiology follow-up for further risk assessment and possible ICD placement or ablation

References

  1. https://litfl.com/arrhythmogenic-right-ventricular-cardiomyopathy-arvc/
  2. Protonotarios, N., and Tsatsopoulou, A. (2006). Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect. Orphanet Journal of Rare Diseases, 1(4).
  3. https://litfl.com/arrhythmogenic-right-ventricular-cardiomyopathy-arvc/
  4. https://litfl.com/arrhythmogenic-right-ventricular-cardiomyopathy-arvc/
  • Anderson EL. Arrhythmogenic right ventricular dysplasia. Am Fam Physician. 2006 Apr 15;73(8):1391-8.
  • Perez Diez D, Brugada J. Diagnosis and Management of Arrhythmogenic Right Ventricular Dysplasia. E-Journal of the ESC Council for Cardiology Practice, European Society of Cardiology 2008.