Eisenmenger Syndrome: Causes, Symptoms, Diagnosis

Eisenmenger syndrome is a condition that affects the heart and lungs
It is a congenital heart defect that causes abnormal blood circulation
Over time, this abnormal circulation can lead to pulmonary hypertension, an increased pressure in the pulmonary arteries
Eisenmenger syndrome is a serious condition that can lead to a variety of complications, including heart failure, stroke, and death
It is most often diagnosed in childhood or early adulthood
With early diagnosis and proper treatment, people with Eisenmenger syndrome can live longer and healthier lives

Eisenmenger syndrome is caused by a congenital heart defect, meaning it is present at birth
The most common heart defects that lead to Eisenmenger syndrome are:
- Ventricular Septal Defect (VSD): A hole in the wall between the two lower chambers of the heart (ventricles)
- Atrial Septal Defect (ASD): A hole in the wall between the two upper chambers of the heart (atria)
- Patent Ductus Arteriosus (PDA): A blood vessel that connects the aorta and pulmonary artery that does not close after birth
- Atrioventricular Canal Defect (AV Canal Defect): A large hole in the center of the heart where the atria and ventricles meet
These defects allow blood to flow abnormally from the left side of the heart to the right side
This increases blood flow to the lungs, which over time damages the pulmonary arteries, causing them to become stiff and narrow
This leads to pulmonary hypertension
Once pulmonary hypertension develops, the pressure in the pulmonary arteries becomes so high that blood starts to flow from the right side of the heart to the left side
This is called Eisenmenger syndrome
The exact cause of congenital heart defects is not always known
Genetic factors and environmental factors may play a role

The symptoms of Eisenmenger syndrome vary depending on the severity of the condition
Some people with Eisenmenger syndrome may have no symptoms for many years
Symptoms may worsen over time
Common symptoms include:
- Shortness of breath, especially during exercise
- Chest pain
- Fatigue
- Cyanosis (a bluish tint to the skin, lips, and nails)
- Dizziness or fainting
- Swelling in the legs, ankles, or feet
- Heart palpitations (a sensation of a rapid or irregular heartbeat)
- Clubbing of the fingers and toes (an abnormal widening and rounding of the fingertips and toes)
- Coughing up blood
- Stroke
- Heart failure
Symptoms may become more apparent during activities that require exertion, such as exercise or pregnancy

Eisenmenger syndrome is typically diagnosed through a combination of physical examination, medical history, and diagnostic tests
A doctor may suspect Eisenmenger syndrome based on the presence of a heart murmur or other signs of a congenital heart defect
Diagnostic tests may include:
- Echocardiogram: Uses sound waves to create a picture of the heart
- Electrocardiogram (ECG): Measures the electrical activity of the heart
- Chest X-ray: Creates an image of the heart and lungs
- Cardiac Catheterization: A thin tube is inserted into a blood vessel and guided to the heart to measure pressures and oxygen levels
- Pulmonary Function Tests: Measures how well the lungs are working
- Blood Tests: Can help assess oxygen levels and detect other abnormalities
Early diagnosis is important to prevent or delay the progression of pulmonary hypertension and other complications

There is no cure for Eisenmenger syndrome, but treatment can help manage symptoms and improve quality of life
Treatment focuses on:
- Reducing pulmonary hypertension
- Preventing complications
- Supporting heart and lung function
Treatment options may include:
- Medications:
  - Pulmonary vasodilators: Help to relax and open up the pulmonary arteries
  - Endothelin receptor antagonists: Block the effects of endothelin, a substance that narrows blood vessels
  - Phosphodiesterase-5 inhibitors: Help to relax the pulmonary arteries
  - Diuretics: Help to reduce fluid buildup in the body
  - Anticoagulants: Help to prevent blood clots
- Oxygen Therapy: Supplemental oxygen can help to improve oxygen levels in the blood
- Phlebotomy: Removing blood to reduce red blood cell count and improve blood flow
- Surgery:
  - Heart-lung transplant: In severe cases, a heart-lung transplant may be an option
  - Atrial septostomy: Creating a hole between the upper chambers of the heart to relieve pressure
- Lifestyle Changes:
  - Avoiding strenuous activity
  - Maintaining a healthy weight
  - Quitting smoking
  - Avoiding high altitudes
  - Preventing dehydration
Regular monitoring by a cardiologist and pulmonologist is essential to manage Eisenmenger syndrome

Eisenmenger syndrome can lead to a variety of complications, including:
- Heart Failure: The heart is unable to pump enough blood to meet the body's needs
- Arrhythmias: Irregular heartbeats
- Stroke: A blood clot blocks blood flow to the brain
- Pulmonary Hemorrhage: Bleeding in the lungs
- Infective Endocarditis: An infection of the inner lining of the heart
- Blood Clots: Can form in the legs or lungs
- Sudden Cardiac Arrest: The heart suddenly stops beating
- Death
Pregnancy is very risky for women with Eisenmenger syndrome and is generally not recommended

The prognosis for people with Eisenmenger syndrome varies depending on the severity of the condition and the presence of complications
Without treatment, the average life expectancy for people with Eisenmenger syndrome is in the 30s or 40s
With early diagnosis and proper treatment, people with Eisenmenger syndrome can live longer and healthier lives
Advances in medical care have improved the outlook for people with this condition
Regular follow-up with a cardiologist and adherence to treatment recommendations are important for improving prognosis