Overview of Eisenmenger syndrome
Eisenmenger syndrome is a condition that affects blood flow from the heart to the lungs in some people who were born with structural heart problems.
Causes of Eisenmenger syndrome
Eisenmenger syndrome is a disorder that results from abnormal blood circulation caused by a defect in the heart. Most often, persons with this condition are born with a hole between the two pumping cavities, the left and right ventricles, of the heart (ventricular septal defect). Other heart defects that can main to Eisenmenger syndrome include:
- Atrioventricular canal defect
- Interatrial communication
- Cyanotic heart disease
- Patent ductus arteriosus
- Truncus arteriosus
Over many years, increased blood flow can damage the small blood vessels in the lungs. This causes high blood pressure in the lungs. As a result, the blood flow goes backwards through the hole between the two pumping chambers. This allows oxygen-poor blood to travel to the rest of the body.
Eisenmenger syndrome may begin to develop before a child reaches puberty. However, it also can develop in young adulthood and may progress throughout young adulthood.
Signs and symptoms of Eisenmenger syndrome
The specific symptoms of Eisenmenger syndrome vary greatly from one person to another. Although the heart defect is present at birth, Eisenmenger syndrome with cyanosis often develops around puberty but can develop sooner or later depending on the location and severity of the congenital heart defect. The symptoms and complications are the results of a combination of the effects of the heart defect, reduced oxygen in the blood, and high pressures in the lungs.
The most notable symptom is called cyanosis, which is the bluish discolouration of the skin and mucous membranes. Individuals affected by Eisenmenger syndrome develop cyanosis, particularly of the lips, fingers, and toes, which is more pronounced during physical exertion. Patients usually have an increased number of blood cells (red blood cells or erythrocytes) that carry oxygen to the body.
Additional signs may include rounding of the tips of the fingers and toes (palpitations), shortness of breath, fatigue, lethargy, or arrhythmias. People with Eisenmenger syndrome are also at increased risk for stroke, coughing up blood (hemoptysis), or gout.
How is Eisenmenger syndrome diagnosed?
The diagnosis of ES is based on the presence of three symptoms:
- A cardiac shunt or opening between the two chambers on opposite sides of the heart.
- Pulmonary hypertension cannot be reversed with medication.
- Cyanosis or blueness
In addition to blood tests, EKG and chest x-ray, other tests are needed to confirm the diagnosis. These include an Echocardiogram, cardiac catheterization and a 6-minute walk test.
Treatment for Eisenmenger syndrome
If the inciting heart defect is identified before it causes significant pulmonary hypertension, it can usually be repaired by surgery, preventing the disease. However, after pulmonary hypertension is sufficient to reverse blood flow through the defect, the maladaptation is considered irreversible and a heart-lung transplant or a lung transplant with heart repair is the only curative option. Transplantation is the last therapeutic option and only for patients with a poor prognosis and quality of life.
Timing and appropriateness of transplantation remain difficult decisions. Survival at 5 and 10 years’ ranges from 70% to 80%, 50% and 70%, 30% and 50%, respectively. Since the average life expectancy of patients after a lung transplant is as low as 30% at 5 years, patients with reasonable performance status related to Eisenmenger syndrome have improved survival with conservative medical care in comparison with transplantation.
Various medications and therapies for pulmonary hypertension are being investigated to treat symptoms. Intravenous air filters are recommended for people with Eisenmenger syndrome who have been hospitalized to reduce the risk of accidental introduction of air into the veins due to the increased risk of paradoxical air embolism. If air enters the veins and travels through the ventricular septal defect into the arterial circulation, a stroke can occur.
Risk factors for Eisenmenger syndrome
A family history of heart defects also increases a baby’s risk of developing a congenital heart defect, including the possibility of developing Eisenmenger syndrome. Talk to your doctor about screening for heart defects in other family members if you’ve been diagnosed with a heart defect or Eisenmenger syndrome.
Without proper treatment and supervision, complications of Eisenmenger syndrome can include:
- Low levels of oxygen in the blood (cyanosis). Reverse blood flow through your heart reduces the amount of oxygen your body’s tissues and organs receive. This makes you have a lower tolerance for physical activity and your skin has a bluish or greyish colour. Cyanosis will get worse over time.
- High red blood cell count. Because you aren’t getting enough oxygen-rich blood circulating throughout your body, your kidneys release a hormone that increases your number of red blood cells the cells that carry oxygen throughout your body. The increase in red blood cells allows more oxygen to be delivered to the body’s tissues, which is an important way the body compensates for decreased oxygen levels.
- Irregular heart rhythm. Enlargement and thickening of the walls in the heart, along with low oxygen levels, may cause an irregular heart rhythm (arrhythmia). Some types of arrhythmias can cause blood to pool in your heart’s chambers, where it can clot. If the clot travels out of your heart and blocks an artery, you can have a heart attack or stroke.
- Sudden cardiac arrest If you develop an abnormal rhythm in the heart’s lower chamber (the ventricle), the heart rate may be too fast to allow the heart to effectively pump blood to the body, and may eventually cause the heart to stop working. Sudden cardiac arrest is an unexpected loss of heart function, breathing, and consciousness. Without immediate medical attention, you can die of sudden cardiac arrest in minutes.
- Heart failure. The increased pressure in your heart can cause your heart muscle to weaken, making it harder for your heart to pump blood. Eventually, this can lead to heart failure.
- Coughing up blood. Increased pressure in the lungs and problems with your blood caused by Eisenmenger syndrome can cause life-threatening bleeding into your lungs and airways. This can cause you to cough up blood and further lower your blood oxygen level. Bleeding can also occur in other parts of the body.
- If a blood clot travels from the right to the left side of the heart without being filtered out by your lungs, the clot may then block a blood vessel in the brain, leading to a stroke.
- Kidney problems. Low oxygen levels in your blood may lead to problems with your kidneys. Eisenmenger syndrome can also increase your risk of developing gout.
- Increased risk of infection. People with Eisenmenger syndrome have a higher risk of infection in the heart (endocarditis).
- Pregnancy risks. Due to the demands pregnancy puts on a mother’s heart and lungs, women who have Eisenmenger syndrome shouldn’t become pregnant. Pregnancy for a woman who has Eisenmenger syndrome poses a high risk of death for both the mother and baby.