Disease Profile

Eisenmenger syndrome

Prevalence ?
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.
1-9 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of Onset

Adolescent

ICD-10

I27.2

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

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

no.svg

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.

no.svg

X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

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.

no.svg

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.

no.svg

Not applicable

notapplicable.svg

Categories

Congenital and Genetic Diseases; Lung Diseases

Summary

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]

Symptoms

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]

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
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

Cause

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] 

Diagnosis

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]

Treatment

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]

 

Organizations

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 Providing General Support

    Learn More

    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.

        References

        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.