Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Congenital and Genetic Diseases; Lung Diseases
Eisenmenger syndrome is not
• Shortness of breath
• Bluish skin, lips, finger and toes (cyanosis)
• Rounded fingertips and toes (clubbing)
• Chest pain
• Feeling tired or dizzy
Other signs and symptoms include an abnormal heart rhythm (arrhythmia), stroke, coughing up blood (hemoptysis), and swelling of joints from excess uric acid (gout). Eisenmenger syndrome mainly develops in people who are born with a heart defect that does not get repaired. The symptoms usually develop before puberty but can also develop in young adulthood and typically get worse with time. 
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Decreased ability to exercise
Inability to exercise
[ more ]
|Pulmonary arterial hypertension||
Increased blood pressure in blood vessels of lungs
|30%-79% of people have these symptoms|
Quivering upper heart chambers resulting in irregular heartbeat
[ more ]
Low blood oxygen level
|Increased pulmonary vascular resistance||0005317|
Missed heart beat
Skipped heart beat
[ more ]
|5%-29% of people have these symptoms|
[ more ]
|Abnormal B-type natriuretic
Accumulation of fluid in the abdomen
|Atrial septal defect||
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|Atrioventricular canal defect||0006695|
Clubbing of fingers and toes
Blue discoloration of the skin
|Elevated jugular venous pressure||0030848|
Coughing up blood
[ more ]
|Iron deficiency anemia||0001891|
|Patent ductus arteriosus||0001643|
Fluid accumulation in lower limbs
Lower leg swelling
[ more ]
[ more ]
|Right bundle branch block||0011712|
|Right ventricular failure||0001708|
|Ventricular septal defect||
Hole in heart wall separating two lower heart chambers
|1%-4% of people have these symptoms|
High blood uric acid level
|Increased mean corpuscular volume||0005518|
Renal failure in adulthood
[ more ]
|Tetralogy of Fallot||0001636|
Over time, this abnormal blood flow can damage the small blood vessels in the lungs. This causes high blood pressure in the lungs. As a result, the blood backs up and does not go to the lungs to pick up oxygen. Instead, the blood goes from the right side to the left side of the heart (right to left shunt), and oxygen-poor blood travels to the rest of the body. 
In addition, people with ES are advised to avoid situations that may make their symptoms worse, including pregnancy, high altitudes, and extreme physical exercise.
Oxygen therapy has been helpful for some people, but it may not prevent the symptoms from getting worse. People with severe symptoms may need a heart-lung transplant. 
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include idiopathic pulmonary hypertension, tetralogy of Fallot, tricuspid atresia, transposition of the great arteries, persistent newborn pulmonary hypertension, pulmonary infection and respiratory failure.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Eisenmenger syndrome. Click on the link to view a sample search on this topic.
- Eisenmenger syndrome. National Organization for Rare Disoders (NORD). 2006; https://rarediseases.org/rare-diseases/eisenmenger-syndrome.
- Wallen TJ, Sergent BN. Eisenmenger Syndrome. In: StatPearls [Internet]. Updated Oct 27, 2018; https://www.ncbi.nlm.nih.gov/books/NBK507800.
- Clave MM, Maeda NY, Castro CRP, Bydlowski SP, Lopes AA. Factors influencing outcomes in patients with Eisenmenger syndrome: a nine-year follow-up study.. Pul Circ. 2017; 7(3):635-642. https://www.ncbi.nlm.nih.gov/pubmed/28704136.
- Connolly HM. Management of Eisenmenger syndrome. UpToDate. Apr 26, 2018; https://www.uptodate.com/contents/management-of-eisenmenger-syndrome.
- Connolly HM. Evaluation and prognosis of Eisenmenger syndrome. UpToDate. May 1, 2018; https://www.uptodate.com/contents/management-of-eisenmenger-syndrome.
- Celermajer DS. Eisenmenger syndrome: a rare malady that continues to fascinate. Eur Heart Jl. 2017; 38:2068-2069. https://www.ncbi.nlm.nih.gov/pubmed/28431027.