Eisenmenger Syndrome

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