Updated: 10/25/2018

Eisenmenger Syndrome

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Snapshot
  • A 20-year-old woman with a history of a childhood heart murmur presents for multiple syncopal episodes. She reports feeling constantly fatigued and has shortness of breath with exertion, even with minor physical activity. Physical exam reveals clubbing of the fingers and 2+ pitting edema bilaterally on the lower extremities. An electrocardiogram reveals right heart hypertrophy. An echocardiogram and right heart catheterization are scheduled.
Introduction
  • Clinical definition
    • uncorrected left-to-right shunting, often caused by congenital heart defect, leading to pulmonary arterial hypertension (PAH) and right ventricular hypertrophy (RVH)
  • Epidemiology
    • risk factors
      • congenital heart defect
  • Etiology
    • ventricular septal defect
    • atrial septal defect
    • patent ductus arteriosus
  • Pathogenesis
    • left-to-right shunting from a congenital heart defect can cause increased pulmonary blood flow
    • irreversible changes in the pulmonary vasculature → PAH
      • normal pulmonary artery pressures are 10-14 mmHg
      • pulmonary hypertension occurs when pressures are ≥ 25 mmHg
    • RVH develops in compensation → shunting reverse in blood flow to become right-to-left → cyanosis and respiratory distress
    • clinically, this results in secondary erythrocytosis, thrombocytopenia, and immune dysfunction
  • Prognosis
    • age of onset depends on type and severity of defect
    • can present as early as childhood
    • death can result from decompensated cor pulmonale
Presentation
  • Symptoms
    • shortness of breath
    • syncope
    • chest pain
    • hemoptysis
    • exercise intolerance
  • Physical exam
    • edema
    • cyanosis of lips, oral mucosa, or extremities
    • cardiac exam
      • high-pitched early diastolic murmur
        • pulmonary insufficiency
      • jugular venous distension
      • loud pulmonary component of S2 sound
    • clubbing of extremities
    • peripheral edema
Imaging
  • Radiography
    • indication
      • performed to exclude lung diseases
    • views
      • chest
    • findings
      • right ventricular enlargement
      • dilated pulmonary arteries
      • loss of peripheral blood vessels
      • increased hilar vasculature markings
  • Doppler echocardiography
    • indications
      • for all patients
      • to estimate pulmonary pressures
    • findings
      • visualization of shunt
Studies
  • Labs
    • complete blood count
      • ↑ hematocrit and hemoglobin
      • ↓ MCV
    • iron studies
      • ↑ TIBC
      • ↓ serum ferritin
      • ↓ Fe2+
  • Electrocardiogram (ECG)
    • findings
      • right heart hypertrophy
  • Right heart catheterization
    • indication
      • to confirm diagnosis
    • findings
      • mean pulmonary arterial pressure at least 25 mmHg at rest
  • Making the diagnosis
    • based on clinical presentation and imaging
Differential
  • Interstitial lung disease causing pulmonary hypertension
    • distinguishing factor
      • chest radiograph typically shows signs of interstitial fibrosis, such as a honeycomb or cystic appearance
Treatment
  • Management approach
    • includes pulmonary vasodilatory therapy, management of erythrocytosis, and management of complications
  • Conservative
    • avoid overexertion with physical activities
      • indication
        • all patients
  • Medical
    • diuretics
      • indication
        • patients with signs of right heart failure and fluid retention
    • vasodilatory therapies
      • indications
        • for patients with PAH
      • drugs
        • endothelin receptor antagonists
          • bosentan
          • ambrisentan
        • phosphodiesterase inhibitors
          • tadalafil
          • sildenafil
  • Operative
    • lung and heart transplant
      • indication
        • end-stage disease refractory to medical management
Complications
  • Heart failure
  • End-organ damage from hyperviscosity of erythrocytosis
 

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