What is Eisenmenger Syndrome?
Eisenmenger syndrome (ES) is a series of symptoms that come from a heart defect present since birth, resulting in significant changes in blood flow. Because of these birth-related variations, certain forces within the heart initially create a ‘left to right’ blood flow pattern. This pattern leads to severe pulmonary arterial hypertension (PAH), a condition where your heart has to work harder to pump blood into your lungs, and increased blood vessel resistance. Over time, due to this increased resistance in the lungs, the ‘left to right’ blood flow reverses, becoming a ‘right to left’, resulting in low levels of oxygen in the blood (hypoxemia) and a bluish coloration of the skin (cyanosis).
PAH is defined by having a higher than normal pressure in the arteries that supply blood to the lungs. This pressure is above 25 mmHg when at rest or above 30 mmHg during exercise. This condition may occur in large blood flow changes or in complex, untreated heart conditions present since birth, as early as the first ten years of life.
What Causes Eisenmenger Syndrome?
Eisenmenger syndrome is a condition that can occur due to any heart defect causing a problem known as Pulmonary Arterial Hypertension (PAH), which is high blood pressure in the lungs. It is often associated with common heart defects such as Atrial Septal Defects (ASD; a hole between the two upper chambers of the heart), Ventricular Septal Defects (VSD; a hole between the two lower chambers of the heart), Atrioventricular Septal Defects (AVSD; a combination of ASD and VSD), and Patent Ductus Arteriosus (PDA; an opening between two major blood vessels leading from the heart). However, it can also occur with more complicated heart conditions. Also, if a certain heart condition named Tetralogy of Fallot (ToF; a combination of four heart defects) is not corrected early, it could lead to Eisenmenger syndrome.
Sometimes, if these heart defects aren’t corrected early, the direction of blood flow from the left side of the heart to the right (left-to-right shunt) can reverse (right-to-left shunt) or become bidirectional. This can lead to a condition called hypoxemia, which is low oxygen levels in the blood, and this condition may not respond to supplemental oxygen therapy.
Risk Factors and Frequency for Eisenmenger Syndrome
Eisenmenger syndrome is a fairly uncommon condition. It often affects individuals in rural or underserved areas where health care access is limited. As a result, significant physical defects may remain unnoticed for a long time.
Signs and Symptoms of Eisenmenger Syndrome
Eisenmenger syndrome is a condition often found in patients with known congenital heart disease. One of the first and most common signs is difficulty in breathing during physical exertion.
Along with breathing trouble, patients might experience other issues, such as:
- Swelling
- Fluid retention
- Fainting
- Increased blueness of skin
- Heart palpitations
- Coughing up blood
Because of low oxygen levels in the blood, patients may also face symptoms like dizziness, headaches, vision impairments, and possibly even damage to internal organs or strokes. This is because the body tries to compensate for the lack of oxygen by producing more red blood cells, making the blood thicker.
Patients may also show physical signs like digital clubbing, especially in the lower extremities, because of abnormal blood circulation. The skin may show various symptoms such as redness, a mottled skin pattern, severe blueness of the extremities, uric acid deposits, bruising, and skin sores due to poor circulation.
Some patients might also have swollen abdomens and tenderness in the upper right abdomen due to issues in the liver and gallbladder.
Testing for Eisenmenger Syndrome
If your doctor suspects that you might have Eisenmenger syndrome, they will start with a thorough check-up, which includes a detailed look at your medical history and a physical exam. They will pay close attention to any factors that might be causing pulmonary arterial hypertension (PAH), which is high blood pressure in the arteries of your lungs. They will also analyze how severe your PAH is and check to see how well your heart’s pumping chambers (ventricles) are working.
As certain blood-pressure-lowering medicines called vasodilators have been found to help people with PAH, your doctor might also test how your blood vessels respond to these drugs.
Next, you’ll likely go through a few tests, which could involve: Pulse oximetry (a simple test that measures the amount of oxygen in your blood), a chest X-ray, an EKG (a test that checks your heart rhythm), tests to check your lung function, a complete blood count (which measures different cells in your blood), iron studies (which check the level of iron in your body), and cytidine monophosphate testing (a test to measure a certain type of chemical in your body).
After these, you may have a cardiac catheterization, which is a procedure that gives your doctor detailed information about how your heart is working. This should be done at specialized centers with expertise in managing Eisenmenger syndrome and PAH.
It’s also worth noting that in Eisenmenger syndrome, you might not have noticeable heart murmurs (unusual sounds during your heartbeat). This can happen when the pressure in your left ventricle is close to the pressure in your right ventricle, creating only a tiny difference. Without any abnormal blood flow, there’s no noticeable murmur when your doctor listens to your heart with a stethoscope.
Treatment Options for Eisenmenger Syndrome
While a heart and lung transplant can be a cure for Eisenmenger syndrome, this treatment is usually not feasible. Medications can often aid with the symptoms of the syndrome, but unfortunately do not reduce the risk of death. Possible medicines used to manage the condition include those that help to reduce fluid build-up (diuretics), control irregular heart rhythms (antiarrhythmics), and prevent blood clots in certain cases (anticoagulants).
Using additional oxygen hasn’t conclusively been found to increase the chances of survival for people with Eisenmenger syndrome. However, certain medicines that widen (vasodilate) blood vessels show potential for further study, as they have shown to alleviate some symptoms. For example, in the BREATHE-5 trial, a certain type of medication known as endothelin antagonists led to patients with specific heart conditions associated with Eisenmenger syndrome displaying improved exercise performance and symptom relief. In other research, the medication sildenafil was also found to increase survival rates.
Warfarin, a commonly used blood clot prevention medication, has been traditionally used in treating Eisenmenger syndrome. The idea here is that preventing the formation of blood clots in the blood vessels can counter some of the issues associated with the disease. However, the evidence supporting this practice largely comes from observational studies.
Regular check-ups are crucial for managing Eisenmenger syndrome. These should ideally include annual blood tests to monitor complete blood count, iron levels, kidney function, and uric acid levels. Any detected abnormalities should be addressed. Doctors should also measure the patient’s oxygen levels in their blood, with and without supplemental oxygen. If low oxygen levels (hypoxemia) are detected, further evaluation is needed.
In adult patients, it’s generally not recommended to perform surgery to correct heart defects – the cause of Eisenmenger syndrome. In cases where the syndrome has led to high blood pressure in the arteries to the lungs (pulmonary arterial hypertension: PAH), these defects could serve a protective function, preventing the resistance of blood flow in the lungs from getting worse due to increasing pressure in the right side of the heart. For children, if they developed lung-related vascular disease with inadequate response to medicines that widen blood vessels, they also risk complications, like heart failure, increased lung blood pressure, and blood pressure crises after surgery.
Conventionally, going through such risky procedures, which could potentially lead to numerous complications, is viewed as providing limited benefits. Even with successful treatment of PAH, only a few cases have shown benefits from surgical closure of the underlying heart defect. However, there’s emerging evidence that cardiac surgery, alongside careful management of lung blood pressure before, during and after the operation using advanced PAH treatments, might improve safety and address future issues.
What else can Eisenmenger Syndrome be?
It’s important to rule out other potential causes when diagnosing pulmonary hypertension due to the shared signs and similarities in the diseases’ development process. Some are:
- Mixed connective tissue disorder
- Scleroderma
- Systemic lupus erythematosus (a type of autoimmune disease)
It’s also worth considering whether hepatitis B, C, or HIV could be the root cause, as these conditions can also affect the blood vessels throughout the body.
What to expect with Eisenmenger Syndrome
People living with Eisenmenger syndrome often have a shortened life expectancy, with a significant risk of death in their thirties and forties. Common causes of death for these individuals can include ventricular failure (a type of heart failure), hemoptysis (coughing up blood), complications during pregnancy, and strokes.
Possible Complications When Diagnosed with Eisenmenger Syndrome
In people with Eisenmenger syndrome, certain situations or activities need to be avoided. These include becoming pregnant, getting dehydrated, doing isometric exercises (exercises where your muscles don’t change in length or move joints, like planks), having anemia due to iron deficiency, or spending a considerable amount of time at high altitudes.
When doctors prescribe medicine for blood pressure, they have to be careful if they take ones that widen the blood vessels. This is because these drugs could make the condition worse by increasing the flow of blood from the right to left side of the heart.
Those with Eisenmenger syndrome are at the risk of developing blood clots within their blood vessels and having a high number of red blood cells. Because of this, they may display symptoms of both a tendency to bleed a lot and an excessive amount of blood clotting. They also have an increased risk of having paradoxical emboli, which is when a blood clot bypasses the lungs by crossing over from the right side of the heart to the left through a hole in the heart. This clot can then travel to the brain or other parts of the body. If it reaches the brain, it could cause a severe stroke.
Golden Rules for Those with Eisenmenger Syndrome:
- Avoid pregnancy
- Prevent dehydration
- Steer clear of isometric exercises
- Avoid iron deficiency anemia
- Minimize time at high altitudes
- Understand blood pressure medication caution
- Monitor for symptoms of excessive bleeding and blood clotting
- Know the risks of severe stroke
