Contents
Constellation of symptoms that arise from pulmonary hypertension, reversal of the central shunt’s flow, and cyanosis secondary to any congenital heart defect (CHD) associated with non-repaired intra/extra-cardiac communication.
History:
The first clinical description originates from the Viennese physician Victor Eisenmenger. In 1897 he reported on a 32-year-old man with cyanosis and dyspnea since infancy. This patient had a reasonably active life until 3 years before his death, when dyspnea increased and right heart failure began. He succumbed suddenly after massive hemoptysis. Autopsy revealed a nonrestrictive membranous malalignment ventricular septal defect (VSD), marked right ventricular hypertrophy, an overriding aorta, and atheromatosis of the major pulmonary arteries. At the time, neither pulmonary artery pressure nor pulmonary vascular disease were understood and hence found no mention in the paper.
During 60 years following Eisenmenger´s report only little insight was gained into the pathophysiology of this disease. In 1951 Paul Wood referred for the first time to the pathophysiology of Eisenmenger syndrome (ES) or pulmonary hypertension with reversed shunt, and in 1958 refined ES as “pulmonary hypertension due to a high pulmonary vascular resistance (PVR) with reversed or bidirectional shunt at aorto-pulmonary, ventricular or atrial level”.
Aetiology
Congenital heart defects:
Any heart defect that leads to the development of PAH can cause Eisenmenger syndrome.
- Atrial septal defects (ASD)
- Ventricular septal defects (VSD)
- Atrioventricular septal defects (AVSD)
- Patent ductus arteriosus (PDA)
- Unrepaired Tetralogy of Fallot (ToF)
Pathophysiology
In this syndrome, the original central left-to-right shunt reverses the direction to right-to-left due to long-standing pulmonary hypertension and high pulmonary vascular resistance turning to systemic or supra-systemic levels, and due to structural obstructive pulmonary vascular disease.
Clinical features
Most common presentation in Eisenmenger syndrome is a patient with known congenital heart disease (CHD) presenting with worsening exertional dyspnea.
- Progressive exertional dyspnea (M/C)
- Swelling, volume retention
- Syncope
- Worsening cyanosis
- Digital clubbing
- Palpitations
- Hemoptysis
Blood hyperviscosity symptoms:
Chronic hypoxemia → ↑ PCV → Polycythemia/blood hyperviscosity
- Dizziness, headaches
- Vision changes
- End organ damage
- Stroke
Dermatologic manifestations:
- Plethora
- Livedo reticularis
- Profound acrocyanosis
- Urate depositions
- Ecchymosis
- Ischemic skin ulcerations
Hepatic congestion and gallbladder pathology:
- Ascites
- Right upper quadrant (RUQ) tenderness
Diagnosis
Management
