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KEY FEATURES

ESSENTIALS OF DIAGNOSIS

  • History of murmur or cyanosis in infancy

  • Symptoms of dyspnea and exercise intolerance since childhood

  • Hemoptysis, chest pain, and syncope in the adult

  • Clubbing, cyanosis, and prominent pulmonic component of S2

  • Compensatory erythrocytosis, iron deficiency, and hyperuricemia

  • Right ventricular hypertrophy; large central pulmonary arteries with peripheral pruning on chest radiograph

  • Severe right ventricular hypertrophy and right atrial enlargement and elevated pulmonary artery pressures

  • Detection of a bidirectional shunt by echocardiography or cardiac catheterization

GENERAL CONSIDERATIONS

  • Defined as congenital heart disease associated with pulmonary hypertension and shunt reversal in the presence of an intracardiac shunt such as ventricular septal defect, atrial septal defect, atrioventricular canal defect, aortopulmonary window, or patent ductus arteriosus

  • Usually more common in post–tricuspid valve lesions versus pre–tricuspid valve lesions

  • Hemoptysis is occasionally due to bronchitis or pneumonia, although pulmonary infarction and pulmonary arteriolar rupture are potentially fatal complications that must be excluded

  • Pregnancy is contraindicated because of an unacceptably high rate of maternal and fetal mortality

  • Patients with marked secondary polycythemia may develop symptoms and signs of hyperviscosity syndrome, especially with hematocrit levels above 70%

CLINICAL PRESENTATION

SYMPTOMS AND SIGNS

  • Murmur or cyanosis during infancy

  • Exertional dyspnea is most common symptom

  • Chest pain, hemoptysis, and presyncope are less common

  • Transient bacteremia can lead to brain abscesses because of right-to-left shunting

PHYSICAL EXAM FINDINGS

  • Cyanosis (more pronounced in the lower extremities when associated with a patent ductus arteriosus)

  • Right ventricular parasternal heave

  • Accentuated P2

  • Jugular venous pressure may be elevated in right ventricular failure with a prominent a wave

  • Systolic murmur of the tricuspid regurgitation may be present

  • High-pitched diastolic murmur of the pulmonic regurgitation (Graham Steell murmur) is common

  • Hepatomegaly, ascites, and peripheral edema may be present

DIFFERENTIAL DIAGNOSIS

  • Pulmonary emboli

  • Other causes of hemoptysis, chest pain, and syncope

  • Other causes of cyanosis

DIAGNOSTIC EVALUATION

LABORATORY TESTS

  • Elevated hematocrit with an increase in red blood cell mass

  • Iron deficiency is common after injudicious phlebotomies

  • Hyperuricemia caused by an increase in red cell turnover may be present

ELECTROCARDIOGRAPHY

  • Right atrial enlargement

  • Right ventricular hypertrophy with right-axis deviation

  • A leftward or superior axis suggests an ostium primum atrial septal defect or atrioventricular canal defect as underlying cause

IMAGING STUDIES

  • Chest x-ray: right atrial enlargement, right ventricular enlargement, prominent proximal pulmonary arteries with pruning of the peripheral pulmonary vessels and pulmonary oligemia

  • Echocardiography:

    • – Severe right atrial enlargement and right ventricular hypertrophy

    • – Variable right ventricular dysfunction

    • – Small underfilled left ventricle

    • – Flattening of the septum (D shaped) during systole

    • – Pulmonary and tricuspid insufficiency

    • – The level of the shunt can be aided ...

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