Eisenmenger Syndrome

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

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