National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Eisenmenger syndrome

Eisenmenger syndrome (ES) refers to the combination of a type of high blood pressure that affects the blood vessels of the lungs and heart (pulmonary hypertension), and abnormal blood flow through the heart.[1][2] ES most often occurs in people who are born with a heart defect (congenital heart defect) that does not get repaired in childhood. The most common type of heart defect associated with Eisenmenger syndrome is a ‘hole in the heart’ or ventricular septal defect, but other types of heart defects can lead to Eisenmenger syndrome. The symptoms include blueish skin color (cyanosis), rounded fingers and toes (clubbing), and shortness of breath.[2] The symptoms of ES typically get worse over time.

Eisenmenger syndrome is not inherited in families. It is diagnosed based on the symptoms in a person with a heart defect that has not been repaired. Treatment for this syndrome includes medications for pulmonary hypertension and avoiding high-risk situations, such as pregnancy and high-altitudes.[3]  A heart-lung transplant is a treatment option for those who have severe ES.[4]
Last updated: 1/23/2019
Signs and symptoms of Eisenmenger syndrome include:

• High blood pressure in the main blood vessels to the lungs (pulmonary hypertension)
• 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. [1][2][5]

Last updated: 1/23/2019

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Exercise intolerance
Decreased ability to exercise
Inability to exercise
[ more ] 		0003546
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
30%-79% of people have these symptoms
Atrial fibrillation
Quivering upper heart chambers resulting in irregular heartbeat
0005110
Exertional dyspnea 0002875
Fatigue
Tired
Tiredness
[ more ] 		0012378
Heart murmur
Heart murmurs
0030148
Hypoxemia
Low blood oxygen level
0012418
Increased pulmonary vascular resistance 0005317
Muscle weakness
Muscular weakness
0001324
Palpitations
Missed heart beat
Skipped heart beat
[ more ] 		0001962
Supraventricular tachycardia 0004755
5%-29% of people have these symptoms
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ] 		0003270
Abnormal B-type natriuretic peptide level 0031138
Angina pectoris 0001681
Aortopulmonary window 0011604
Ascites
Accumulation of fluid in the abdomen
0001541
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 ] 		0001631
Atrioventricular canal defect 0006695
Chest pain 0100749
Clubbing
Clubbing of fingers and toes
0001217
Cyanosis
Blue discoloration of the skin
0000961
Elevated C-reactive protein level 0011227
Elevated jugular venous pressure 0030848
Hemoptysis
Coughing up blood
0002105
Hepatojugular reflux 0030849
Hepatomegaly
Enlarged liver
0002240
Hoarse voice
Hoarseness
Husky voice
[ more ] 		0001609
Hypochromic microcytic anemia 0004840
Iron deficiency anemia 0001891
Left-to-right shunt 0012382
Lethargy 0001254
Patent ductus arteriosus 0001643
Pedal edema
Fluid accumulation in lower limbs
Lower leg swelling
[ more ] 		0010741
Peripheral edema 0012398
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ] 		0002098
Right bundle branch block 0011712
Right ventricular failure 0001708
Right-to-left shunt 0001694
Tricuspid regurgitation 0005180
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Ventricular tachycardia 0004756
1%-4% of people have these symptoms
Abnormal bleeding
Bleeding tendency
0001892
Bacterial endocarditis 0006689
Brain abscess 0030049
Generalized edema 0007430
Hypercoagulability 0100724
Hyperuricemia
High blood uric acid level
0002149
Increased mean corpuscular volume 0005518
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Stroke 0001297
Syncope
Fainting spell
0001279
Tetralogy of Fallot 0001636
Ventricular arrhythmia 0004308
Vertigo
Dizzy spell
0002321
Wheezing 0030828
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Last updated: 7/1/2020
Eisenmenger syndrome (ES) is caused by a defect in the heart.[2] The most common heart defect that can lead to ES is a ventricular septal defect (VSD), a hole between the two pumping chambers (the left and right ventricles) of the heart. Other heart defects that can lead to Eisenmenger syndrome include atrial septal defect (ASD) and patent ductus arteriosus (PDA). These heart defects allow blood that has already picked up oxygen from the lungs to flow back into the lungs, instead of going out to the rest of the body. This can eventually lead to increased pressure in the pulmonary artery (pulmonary hypertension), the main blood vessel that connects the heart and the lungs. Increased pulmonary hypertension leads to abnormal blood flow and results in less oxygen going to the body.

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.[1] [6] 
Last updated: 1/23/2019
Eisenmenger syndrome is not inherited in families. However, genetic factors may contribute to the chance to be born with a heart defect.[1]
Last updated: 1/23/2019
Eisenmenger syndrome (ES) is diagnosed based on the symptoms and the presence of a heart defect. Additional blood work and other medical tests may be done to determine the extent of the symptoms. These tests may include pulse oximetry (checks blood oxygen levels), chest x-ray, EKG, pulmonary function tests, complete blood count (CBC), and a test for iron levels.[5]
Last updated: 1/23/2019
A person with Eisenmenger syndrome (ES) may need to be seen by several specialists, including a heart specialist (cardiologist), a doctor who specialize in taking care of the lungs (pulmonologist) and a doctor who takes care of blood and blood diseases (hematologist), as well as other specialists. Treatment usually involves different medications to help lessen the severity of the symptoms. Medications may include diuretics to control excess fluid, medications to help regulate heart rate, and anticoagulants to help prevent blood clots. Some people are placed on antibiotics to help reduce the chance of getting an infection. Vasodilators, medications that help relax the blood vessels may also be helpful.[3][4]

In addition, people with ES are advised to avoid situations that may make their symptoms worse, including pregnancy, high altitudes, and extreme physical exercise.[3]

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. [4]
 
Last updated: 1/23/2019
The long-term outlook for someone with Eisenmenger syndrome depends on the severity of the symptoms and the presence of any other health conditions. Typically, the symptoms of ES get worse over time.[1][5]
Last updated: 1/23/2019
The exact number of people with Eisenmenger syndrome (ES) is unknown. This condition occurs in about 1-6% of adults who are born with a heart defect.[3] ES is more common in people who have a heart defect that was not detected or surgically repaired as a child.
Last updated: 1/23/2019

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.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Eisenmenger syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Eisenmenger syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Eisenmenger syndrome:
    CHD GENES Study
     

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.

Organizations Supporting this Disease

Organizations Providing General Support

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

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.

Where to Start

  • 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.

In-Depth Information

  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Eisenmenger syndrome. National Organization for Rare Disoders (NORD). 2006; https://rarediseases.org/rare-diseases/eisenmenger-syndrome.
  2. Wallen TJ, Sergent BN. Eisenmenger Syndrome. In: StatPearls [Internet]. Updated Oct 27, 2018; https://www.ncbi.nlm.nih.gov/books/NBK507800.
  3. 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.
  4. Connolly HM. Management of Eisenmenger syndrome. UpToDate. Apr 26, 2018; https://www.uptodate.com/contents/management-of-eisenmenger-syndrome.
  5. Connolly HM. Evaluation and prognosis of Eisenmenger syndrome. UpToDate. May 1, 2018; https://www.uptodate.com/contents/management-of-eisenmenger-syndrome.
  6. 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.