EKG

Arrhythmogenic Right Ventricular Dysplasia

search

Arrhythmogenic Right Ventricular Dysplasia, Arrhythmogenic Right Ventricular Cardiomyopathy, Arrhythmogenic Cardiomyopathy, Right Ventricular Dysplasia, ARVD

  • See Also
  1. Sudden Cardiac Death
  2. Sudden Death in Athletes
  3. Cardiomyopathy
  • Epidemiology
  1. More common in Mediterranean descent
  2. Prevalence: 1 in 1,000 to 5000
  3. Accounts for 5% of Sudden Cardiac Death in under age 65
  4. Gender predominance: Male by 3:1 margin
  5. Age range (typically 4th decade of life): 20 to 47 years old
  6. Familial in 50% of cases
  • Pathophysiology
  1. Associated with Ventricular Tachycardia predisposition
  2. Rare inherited Cardiomyopathy with variable Genetics
    1. Common effect is on desmosomal Proteins
  3. Right ventricular wall infiltrated with fat and fibrous tissue (fibrofatty infiltration)
    1. Results in thinning and ballooning of the right ventricular wall
    2. Historically described in the right ventricle, but may also affect the left ventricle
    3. Localized to triangle of dysplasia
      1. Superior landmark: Anterior infundibulum
      2. Inferior right landmark: Inferior right ventricle
      3. Inferior left landmark: Right ventricular apex
  • Findings
  • Presentations
  1. Syncope
  2. Refractory rapid Tachycardia
  3. Sudden Cardiac Death (Cardiac Arrest)
    1. May present as sudden death in young athletes
  • Symptoms
  1. Palpitations
  2. Fatigue
  3. Decreased Exercise tolerance
  4. Dyspnea on exertion
  1. Naxos Disease: Wooly hair and palmoplantar keratoderma
  • Diagnostics
  • Specific findings in ARVD
  1. Electrocardiogram (changes present in leads V1-V3, at least 1 abnormality in 85% of patients)
    1. Right precordial, septal T Wave Inversion in V1-V3 (not with right BBB)
    2. QRS Complex duration > 110 ms in leads V1-V3
    3. Epsilon Waves (small amplitude notch at end of QRS Complex)
    4. Right Bundle Branch Block
  2. Echocardiogram
    1. Right ventricular Myocardium with fatty infiltration
    2. Secondary right ventricular wall motion abnormality
    3. Dilatation and reduced right ventricular ejection Fracture
    4. Localized aneurysms or segmental dilatation
  3. Electrophysiologic studies
  4. Cardiac MRI
    1. Cardiac MRI has largely replaced biopsy for diagnosis
  5. Endomyocardial biopsy
    1. Myocardium replaced by fibrofatty tissue
    2. Gold standard for diagnosis
    3. Test Sensitivity: 20% (patchy involvement results in high False Negative Rate)
    4. Test Specificity: 92%
  • Diagnostics
  • Other testing to differentiate other causes
  1. Holter Monitor
  2. Exercise Stress Test
  3. MR Angiogram or CT Angiogram
  • Management
  • General
  1. Avoid physical exertion until evaluation completed
  2. Cardiology or electrophysiology Consultation
  1. See Ventricular Tachycardia
  2. Medications (no single drug is universally effective)
    1. First-line agents
      1. Amiodarone
      2. Sotalol
    2. Other agents if refractory to above
      1. Beta Blockers
      2. Procainamide
      3. Flecainide
      4. Propafenone
  1. Therapy goals
    1. Decrease Arrhythmia
    2. Prevent Sudden Cardiac Death
  2. Medications
    1. Amiodarone
    2. Sotalol
    3. Beta Blockers
    4. Propafenone
  3. Exercise precautions
    1. Limited low intensity activity is typically allowed
      1. Use Shared Decision Making with expert Consultation regarding allowed levels of activity
    2. Avoid high intensity and prolonged endurance Exercise
      1. Risk of ARVD disease progression and Arrhythmia risk
  4. Radiofrequency ablation indications
    1. Medication refractory Ventricular Tachycardia
    2. Frequent Ventricular Tachycardia post-AICD placement
    3. Localized source of Arrhythmia
  5. Implantable Defibrillator (AICD) indications
    1. Cardiac Arrest
    2. Ventricular Tachycardia episodes refractory to above
    3. Age <35 years
    4. Left ventricle involved
  6. Surgery in refractory cases
    1. Right ventriculotomy
    2. Heart Transplantation
  • Complications
  1. Sudden Cardiac Death
  • Prevention
  1. Screening for first degree relatives of those with Arrhythmogenic Cardiomyopathy (e.g. ekg, Echocardiogram, exam)
    1. Screen every 2-3 years
  • References
  1. Brieler (2017) Am Fam Physician 96(10):640-6 [PubMed]
  2. Anderson (2006) Am Fam Physician 73:1391-1401 [PubMed]
  3. Coppiano (2026) Am Fam Physician 113(2): 166-73 [PubMed]
  4. Fontaine (1998) Circulation 97:1532-5 [PubMed]
  5. Gear (2003) Circulation 107:e31-3 [PubMed]