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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 reverse 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 mm Hg 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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