EC Paediatrics

Review Article Volume 13 Issue 6 - 2024

Eisenmenger Syndrome in Children: A Review on Current Perspectives and Advanced Therapies

Mariam Mahmoud Hassan El Makkawy1*, Safwat Hassan Gad2, Wan Ariffin bin Abdullah3 and Jamaluddin Bin Haji Mohamad4

1Member of Royal College of Paediatrics and Child Health, London, UK and Senior Lecturer, Faculty of Medicine, Department of Paediatrics, Malaysian Allied Health Science Academy (MAHSA University), Malaysia
2Senior Associate Professor, Faculty of Medicine, Department of Paediatrics, AIMST University, Malaysia
3Senior Professor, Faculty of Medicine, Department of Paediatrics, Malaysian Allied Health Science Academy (MAHSA University), Malaysia
4Professor, Faculty of Medicine, Department of Paediatrics, Malaysian Allied Health Science Academy (MAHSA University), Malaysia

*Corresponding Author: Mariam Mahmoud Hassan El Makkawy, Member of Royal College of Paediatrics and Child health, London, UK and Senior Lecturer, Faculty of Medicine, Department of Paediatrics, Malaysian Allied Health Science Academy (MAHSA University), Malaysia.
Received: May 20, 2024; Published: May 31, 2024



Eisenmenger syndrome (ES) is the most advanced form of pulmonary arterial hypertension associated with congenital heart disease, it is first described by Victor Eisenmenger, was defined by Paul Wood in pathophysiologic terms as pulmonary hypertension at systemic level, caused by a high pulmonary vascular resistance, with reversed or bidirectional shunt at aorto-pulmonary, ventricular, or atrial level. Despite major breakthroughs in pediatric cardiology and cardiac surgery that have dramatically improved the course of congenital heart diseases over the past half century, ES is still encountered in between 1% and 5.6% of large tertiary congenital heart diseases cohorts, posing challenges to patients’ quality of life and longevity and to health care. Although patients with ES can survive into the fourth and fifth decades of life, their condition is associated with high morbidity, reduced functional status, and frequent hospitalizations.

 Keywords: Eisenmenger Syndrome; Pulmonary Arterial Hypertension; Pulmonary Vascular Resistance; Congenital Heart Diseases; Bidirectional Shunt; Pediatric Cardiology; Cardiac Surgery

  1. Eisenmenger V. “Die angeborenen Defecte der Kammerscheidewand des Herzens”. Zeitschrift fur klinische Medizin 32 (1897): 1-28.
  2. Diller GP., et al. “Presentation, survival prospects, and predictors of death in Eisenmenger syndrome: a combined retrospective and case-control study”. European Heart Journal 14 (2006): 1737-1742.
  3. Diller GP., et al. “Current therapy and outcome of Eisenmenger syndrome: Data of the German National Register for congenital heart defects”. European Heart Journal 18 (2016): 1449-1455.
  4. Moceri P., et al. “Physiological differences between various types of Eisenmenger syndrome and relation to outcome”. International Journal of Cardiology 179 (2015): 455-460.
  5. Alonso-Gonzalez R., et al. “Pulmonary hypertension and congenital heart disease: an insight from the REHAP National Registry”. International Journal of Cardiology 184 (2015): 717-723.
  6. Haworth SG and Hislop AA. “Treatment and survival in children with pulmonary arterial hypertension: the UK Pulmonary Hypertension Service for Children 2001-2006”. Heart 4 (2009): 312-317.
  7. Van Loon RL., et al. “Pediatric pulmonary hypertension in the Netherlands: epidemiology and characterization during the period 1991 to 2005”. Circulation 16 (2011): 1755-1764.
  8. Dimopoulos K., et al. “Prevalence, predictors, and prognostic value of renal dysfunction in adults with congenital heart disease”. Circulation18 (2008): 2320-2328.
  9. Kempny A., et al. “Reference values for exercise limitations among adults with congenital heart disease. Relation to activities of daily life-single centre experience and review of published data”. European Heart Journal 11 (2012): 1386-1396.
  10. Rosove MH., et al. “Chronic hypoxaemia and decompensated erythrocytosis in cyanotic congenital heart disease”. Lancet 8502 (1986): 313-315.
  11. Silversides CK., et al. “Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: complex congenital cardiac lesions”. Canadian Journal of Cardiology 3 (2010): e98-e117.
  12. Broberg CS., et al. “Blood viscosity and its relationship to iron deficiency, symptoms, and exercise capacity in adults with cyanotic congenital heart disease”. Journal of the American College of Cardiology 2 (2006): 356-365.
  13. Machado RD., et al. “Pulmonary arterial hypertension: a current perspective on established and emerging molecular genetic defects”. Human Mutation 12 (2015): 1113-1127.
  14. Roberts KE., et al. “BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease”. European Respiratory Journal 3 (2004): 371-374.
  15. Cruz-Utrilla A., et al. “Clinical implications of the genetic background in pediatric pulmonary arterial hypertension: data from the Spanish REHIPED registry”. International Journal of Molecular Sciences 18 (2022): 10433.
  16. Forlemu AN., et al. “Atrial septal defect with Eisenmenger syndrome: a rare presentation”. Case Reports in Cardiology (2020): 8681761.
  17. Diller GP and Gatzoulis MA. “Pulmonary vascular disease in adults with congenital heart disease”. Circulation8 (2007): 1039-1050.
  18. Baumgartner H., et al. “2020 ESC guidelines for the management of adult congenital heart disease”. European Heart Journal 6 (2021): 563-645.
  19. Galie N., et al. “2015 ESC/ ERS guidelines for the diagnosis and treatment of pulmonary hypertension”. Kardiologia Polska 73 (2015): 1127-1206.
  20. Dimopoulos K., et al. “Improved survival among patients with Eisenmenger syndrome receiving advanced therapy for pulmonary arterial hypertension”. Circulation1 (2010): 20-25.
  21. Broberg CS., et al. “Blood viscosity and its relationship to iron deficiency, symptoms, and exercise capacity in adults with cyanotic congenital heart disease”. Journal of the American College of Cardiology 2 (2006): 356-365.
  22. Stout KK., et al. “2018 AHA/ACC guideline for the management of adults with congenital heart disease: executive summary: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines”. Journal of the American College of Cardiology 12 (2019): 1494-1563.
  23. Triastuti N., et al. “Usage of inhaled nitric oxides in cases of Eisenmenger syndrome”. Indonesian Journal of Medical Sciences and Public Health 1 (2020): 13-19.
  24. Brennan K and Hatch DM. “Eisenmenger’s Syndrome”. In: Consults in Obstetric Anesthesiology. Switzerland: Springer Nature (2018): 185-187.
  25. D’Alto M and Diller GP. “Pulmonary hypertension in adults with congenital heart disease and Eisenmenger syndrome: Current advanced management strategies”. Heart 17 (2014): 1322-1328.
  26. Therrien J., et al. “Canadian Cardiovascular Society Consensus Conference 2001 update: recommendations for the management of adults with congenital heart disease part III”. Canadian Journal of Cardiology11 (2001): 1135-1158.
  27. Beghetti M. “Pulmonary arterial hypertension related to congenital heart disease”. Munich: Elsevier (2006).
  28. Baumgartner H., et al. “2020 ESC guidelines for the management of adult congenital heart disease”. European Heart Journal6 (2021): 563-645.
  29. Akagi S., et al. “Treat-and-repair strategy is a feasible therapeutic choice in adult patients with severe pulmonary arterial hypertension associated with a ventricular septal defect: case series”. European Heart Journal - Case Reports 2 (2018): yty033.
  30. Humbert M., et al. “2022 ESC/ERS guidelines for the diagnosis and treatment of pulmonary hypertension”. European Respiratory Journal1 (2023): 2200879.
  31. Abman SH., et al. “Pediatric pulmonary hypertension: guidelines from the American Heart Association and American Thoracic Society”. Circulation 21 (2015): 2037-2099.
  32. Ivy DD and Frank BS. “Treat and repair for congenital heart disease and pulmonary hypertension: not a panacea”. JACC: Advances4 (2024): 100891.
  33. Rabinovitch M., et al. “Vascular structure in lung tissue obtained at biopsy correlated with pulmonary hemodynamic findings after repair of congenital heart defects”. Circulation4 (1984): 655-667.
  34. Haworth SG and Hislop AA. “Treatment and survival in children with pulmonary arterial hypertension: the UK Pulmonary Hypertension Service for Children 2001-2006”. Heart4 (2009): 312-317.
  35. Waddell TK., et al. “Heart-lung or lung transplantation for Eisenmenger syndrome”. Journal of Heart and Lung Transplantation 7 (2002): 731-737.
  36. Stoica SC., et al. “Heart-lung transplantation for Eisenmenger syndrome: early and long-term results”. Annals of Thoracic Surgery 6 (2001): 1887-1891.
  37. Christie JD., et al. “The Registry of the International Society for Heart and Lung Transplantation: twenty-seventh official adult lung and heart-lung transplant report - 2010". Journal of Heart and Lung Transplantation 10 (2010): 1104-1118.

Mariam Mahmoud Hassan El Makkawy., et al. "Eisenmenger Syndrome in Children: A Review on Current Perspectives and Advanced Therapies". EC Paediatrics 13.6 (2024): 01-07.