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Eisenmenger syndrome (ES)

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.

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)
Eisenmenger syndrome usually arises when a large intra/extra-cardiac connection, such as a VSD (as in figure) is left unrepaired. Initially, the blood flows from the left to the right side of the heart. Over time, the pulmonary vascular resistance can rise to exceed the systemic vascular resistance and then the flow through the defect reverses; this results in cyanosis, erythrocytosis and a variety of consequences, as shown. | Celermajer, D. (2017). Eisenmenger syndrome: a rare malady that continues to fascinate. European Heart Journal, 38, 2068–2069.

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.

Key Stages in the Development of Eisenmenger Syndrome | PVR = pulmonary vascular resistance. | Vongpatanasin W., Brickner M.E., Hillis L.D., Lange R.A. (1998) The Eisenmenger syndrome in adults. Ann Intern Med 128:745–755.

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

a) Pressure tracings from the aorta (AO) and pulmonary artery (PA), demonstrating systemic levels of pulmonary arterial pressures. Mean pulmonary arterial pressure is 54 mmHg. b) Cardiac magnetic resonance showing the large patent ductus arteriosus (PDA), with bidirectional shunting between the PA to the descending AO. c) Computed tomography of the thorax demonstrating an area of intrapulmonary haemorrhage in the left upper lung (white arrow). The PDA is also seen between the AO and PA (black arrow). | Dimopoulos, K. (2013). Eisenmenger syndrome in an adult patient with a large patent ductus arteriosus. European Respiratory Review, 22(130), 558 LP – 564. https://doi.org/10.1183/09059180.00007013

Management

Stepwise approach to managing pulmonary arterial hypertension (PAH) at Canadian expert centres, starting from bottom of the pyramid. | NYHA-FC = New York Heart Association functional class, PH = pulmonary hypertension. | Hambly, N., Alawfi, F., & Mehta, S. (2016). Pulmonary hypertension: diagnostic approach and optimal management. CMAJ : Canadian Medical Association Journal = Journal de l’Association Medicale Canadienne, 188(11), 804–812. https://doi.org/10.1503/cmaj.151075

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