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Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.
Features include very common findings: Abnormal heart morphology, High blood pressure in lung arteries (pulmonary arterial hypertension), and Exercise intolerance; and common findings: Muscle weakness, Palpitations, Exertional dyspnea, and Supraventricular tachycardia and others. 58 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 16 | Abnormal heart morphology, High blood pressure in lung arteries (pulmonary arterial hypertension), Supraventricular tachycardia |
Biomarker and diagnostic research for Eisenmenger syndrome has been reported in the published literature.
Phenotype severity distribution: 3 very common features, 10 common features.
Estimated prevalence: 1-9 in 1,000,000 (Rare).
3 clinical trials registered, 2 recruiting. Interventions under study include drug therapy. Pipeline includes 1 PHASE4, 1 PHASE2, 1 NA. Research is primarily sponsored by academic and government institutions.
120 publications have been identified in PubMed for Eisenmenger syndrome. Research spans Case Report / Case Series (44%), Review / Meta-Analysis (19%), and Epidemiology / Natural History (18%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 53 |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Eisenmenger syndrome
Lungs and breathing | 6 | High blood pressure in lung arteries (pulmonary arterial hypertension), Exertional dyspnea, Increased pulmonary vascular resistance |
Digestive system | 5 | Abnormality of the liver, Ascites, Enlarged liver (hepatomegaly) |
Brain and nerves | 4 | Exercise intolerance, Fatigue, Stroke |
Blood and immune system | 4 | Low iron red blood cell count (iron deficiency anemia), Hypochromic microcytic anemia, Abnormal bleeding tendency (abnormal bleeding) |
Muscles | 1 | Muscle weakness |
Lab test results | 1 | Elevated CRP (inflammation marker) (elevated circulating c-reactive protein concentration) |
Kidneys and urinary system | 1 | Reduced kidney function (renal insufficiency) |
Ears | 1 | Vertigo |
Research summaries | 23 | 19% |
Disease patterns and progression | 22 | 18% |
Clinical study results | 13 | 11% |
Other research | 3 | 3% |
Testing and diagnosis research | 3 | 3% |
Laboratory research | 2 | 2% |
New treatment approaches | 1 | 1% |
Kadiyani L (2026). [PMID: 42112055](https://pubmed.ncbi.nlm.nih.gov/42112055/). *Ann Pediatr Cardiol*. [Clinical Trial Publication]
Sun Y (2026). [PMID: 41923062](https://pubmed.ncbi.nlm.nih.gov/41923062/). *BMC Pregnancy Childbirth*. [Epidemiology / Natural History]
Alahmadi MH (2026). [PMID: 29261884](https://pubmed.ncbi.nlm.nih.gov/29261884/). *Unknown Journal*. [Other]
Long Y (2026). [PMID: 42256821](https://pubmed.ncbi.nlm.nih.gov/42256821/). *Cureus*. [Case Report / Case Series]
Kadota M (2026). [PMID: 41535026](https://pubmed.ncbi.nlm.nih.gov/41535026/). *Internal medicine (Tokyo, Japan)*. [Case Report / Case Series]
Basit H (2026). [PMID: 29939577](https://pubmed.ncbi.nlm.nih.gov/29939577/). *Unknown Journal*. [Other]
Wang J (2026). [PMID: 41871419](https://pubmed.ncbi.nlm.nih.gov/41871419/). *Eur Heart J Cardiovasc Imaging*. [Case Report / Case Series]
Aggarwal MA (2026). [PMID: 41971413](https://pubmed.ncbi.nlm.nih.gov/41971413/). *Pulm Circ*. [Clinical Trial Publication]
Aldawsari KA (2026). [PMID: 42005857](https://pubmed.ncbi.nlm.nih.gov/42005857/). *Pulm Circ*. [Case Report / Case Series]
Tutarel O (2026). [PMID: 41815805](https://pubmed.ncbi.nlm.nih.gov/41815805/). *Pulmonary circulation*. [Gene Therapy / Novel Therapeutics]