Updated: 7/21/2019

Eisenmenger Syndrome

Review Topic
  • Snapshot
    • A 26-year-old man presents to his cardiologist for exercise intolerance and blue discoloration of the lips and fingernails. He also reports occasionally coughing up blood. He reports having been diagnosed with a congenital heart defect when he was young but was lost to follow-up after moving cities. A Doppler echocardiogram shows a ventricular septal defect, right ventricular hypertrophy, and elevated pulmonary vascular resistance.
  • Introduction
    • Clinical definition
      • uncorrected left-to-right shunting, often caused by a 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 mm Hg
          • pulmonary hypertension occurs when pressures are > 25 mmHg
      • RVH develops in compensation → shunting reverses 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 the 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 the 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
        • indication
          • 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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(M1.CV.13.116) A 27-year-old woman with a history of a "heart murmur since childhood" presents following a series of syncopal episodes over the past several months. She also complains of worsening fatigue over this time period, and notes that her lips have begun to take on a bluish tinge, for which she has been using a brighter shade of lipstick. You do a careful examination, and detect a right ventricular heave, clubbing of the fingers, and 2+ pitting edema bilaterally to the shins. Despite your patient insisting that every doctor she has ever seen has commented on her murmur, you do not hear one. Transthoracic echocardiography would most likely detect which of the following?

QID: 100632

Aortic stenosis



Mitral insufficiency



Positive bubble study



Ventricular aneurysm



Dynamic left ventricular outflow tract obstruction



M 1 E

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