Eisenmenger Syndrome: Causes, Symptoms & Treatment

Eisenmenger syndrome is a congenital heart defect. As a result of pulmonary arterial hypertension (PAH), it causes severe lung and heart damage. Heartlung transplantation is the only curative thrapy. In most cases, patients live only until the third decade of life.

Eisenmenger syndrome

Eisenmenger syndrome is also called Eisenmenger reaction or Eisenmenger complex. It is based on a congenital heart defect. This is usually diagnosed in childhood. This defect allows blood from the left side of the heart to return to the right side of the heart via a shunt, a hole in the ventricular septum. The resulting change in pressure in the heart, creates pathological vascular pressure in the pulmonary arteries. This change manifests as pulmonary arterial hypertension (PAH), which is also called pulmonary hypertension. Lung function is impaired, leading to respiratory distress. Cardiovascular symptoms develop and lead to life-threatening complications.

Causes

The cause of iron quantity syndrome is a defect in the cardiac septum. The cardiac septum divides the heart into right and left hemispheres. Oxygen-depleted venous blood from the tissues collects in the right side of the heart. The blood now flows into the lungs, where it is enriched with oxygen. The oxygen-rich blood then enters the left half of the heart and is returned to the systemic circulation via the main artery, the aorta. The force needed to bring the blood into our body is greater than the force needed to pump it into the lungs. When blood from the left side of the heart enters the right side of the heart through a left-right saunt in the cardiac septum, more pressure builds up. Blood accumulates in the left side of the heart. This puts a strain on the heart. It has to work harder, so the heart muscle grows and becomes insufficient. The risk of thrombosis increases due to the low flow. If the pressure in the left ventricle now rises steadily. This gradually becomes greater than the pressure in the right ventricle. A stunt reversal occurs. The oxygen-depleted blood now enters the systemic circulation directly, without passing through the pulmonary circulation to become saturated with oxygen. An oxygen deficit develops. This is usually manifested by a blue coloration (cyanosis) of the fingers and lips. This is called an iron quantity reaction. Insufficient oxygen supply in organs is fatal.

Symptoms, complaints, and signs

The symptoms of Eisenmenger syndrome arise from heart failure. Typical symptoms of heart failure include cyanosis, dyspnea due to exertion, fatigue, dizziness, headache, and syncope. Many patients are aware of their heart beating faster and stronger. This is referred to as palpitation. Other consequences of the oxygen deficiency are sensory disturbances in the arms and legs. These are caused by sinking nerve fibers, as these also need oxygen to survive. The eye also needs a lot of oxygen, so that visual disturbances manifest themselves early. Another sensitive organ is the kidney. It already has a low oxygen content in the tissue under physiological conditions. If this saturation drops further, the kidney tissue dies. Since the kidney is responsible not only for regulating the water balance but also for regulating blood pressure, many patients develop high blood pressure. This can cause additional damage to vessels and the heart muscle.

Diagnosis

A heart defect can already be detected during the physical examination by the physician. To do this, the doctor listens to the lungs and heart with the standing tooscope. If the suspicion of a heart defect hardens, an electrocardiogram (ECG) and an echocardiogram are performed. Here, the enlargement of the heart (right ventricular hypertrophy) and the shunt are noted. Polyglobulia, an increased red cell count or hemoglobin concentration in the blood, may be found in the blood count. It is a physiological adaptation to internal oxygen deficiency. However, it is accompanied by changes in the viscosity of the blood.

Complications

Eisenmenger syndrome is already a complication of an unrecognized heart defect. Acutely, blood and mucus collections form in the lung cavity as a result of the syndrome, accompanied by coughing attacks and inflammation. In addition, there may be attacks of weakness and, as a result of blood loss, acute anemia with feelings of weakness and circulatory collapse.If the syndrome remains untreated, the underlying heart failure inevitably leads to further complications of the heart and lungs. Typical symptoms include fatigue, dizziness, headache and shortness of breath on movement. As a result of the accelerated pulse, palpitation can also occur, in which the patient’s own heartbeat is perceived as particularly loud and disturbing. The lack of oxygen also leads to concentration problems and thus increases the risk of accidents and falls. In the further consequence it comes sometimes to bad sensations in the limbs, heavy visual disturbances and kidney complaints. In the long term, Eisenmenger’s syndrome causes permanent damage to the blood vessels and internal organs. The heart, lungs and brain are most severely affected. The altered viscosity of the blood affects other endogenous processes and is also usually accompanied by a severe decrease in general well-being.

When should you go to the doctor?

When the typical symptoms of heart failure are noticed, a physician must be consulted immediately. For example, Eisenmenger’s syndrome manifests itself as fatigue, dizziness, and headache. If these symptoms occur and do not subside within a few days, this indicates a heart defect. A doctor must determine whether this is Eisenmenger’s syndrome or some other condition. If a heart defect is indeed present, regular visits to a cardiologist are indicated. Depending on how advanced Eisenmenger’s syndrome is, heart-lung transplantation may still be an option. In most cases, however, treatment is limited to palliative measures. These must be taken in any case, because otherwise the already limited life span will be shortened even further. Therefore, if a heart disease is suspected, a doctor must be consulted immediately. Parents who notice unusual symptoms in their child that cannot be attributed to any other cause should consult the pediatrician. The latter can diagnose Eisenmenger’s syndrome and arrange for immediate cardiac treatment.

Treatment and therapy

Treatment of patients is usually limited to palliative care. Curative, curative, therapeutic intervention is possible only by heart-lung transplantation. Correction of the defect in existing PAH is futile because the increased pressure from the Eisenmenger reaction has already caused irreversible damage to the lungs. Surgical correction can only take place before this event. In adults, such surgery is contraindicated because of a high rate of complications and mortality. Diuretics, antiarrhythmic drugs and anticoagulation, and digitalis may marginally prevent progression of the disease. Diuretics decrease the volume content in our body by excreting more water through the kidney. Less volume means less pressure in the buttocks. The heart is relieved of pressure. Antiarrhythmics prevent atrial or ventricular fibrillation. Fibrillation promotes embolism in the lungs and brain. Anticoagulations, also known as blood thinners, additionally reduce the risk of embolism. Modern approaches are drug interventions in hemodynamics. This is attempted through endothelin receptor antagonists, PDE-5 inhibitors, and prostacyclin analogues. These drugs cause vasodilatation. The resistance in the vessels decreases. Less resistance requires less pressure. Cardiac output improves. Oxygen saturation does not.

Outlook and prognosis

The age at which the diagnosis is made is critical to the outlook in Eisenmenger syndrome. If it is made at an early age, before the blood vessels of the lungs are irreversibly damaged and pulmonary hypertension has occurred, the malformation can still be corrected promisingly by surgery. The chances of survival are lower if the anomaly is more extensive or if there is another disease in addition to Eisenmenger syndrome, such as Down syndrome. Pregnancy is also associated with life-threatening risks for affected individuals. In pregnant women suffering from Eisenmenger syndrome, the mortality rate is over 50%. The general life expectancy of patients with this condition is between 20 and 50 years, depending on the type and extent of the anomaly. Affected individuals, in whom the symptoms are less severe due to a milder malformation, can even live to be around 60 years old.The average age at death is around 37 years. The quality of life of those affected is significantly reduced due to the limited exercise tolerance and the occurrence of secondary diseases. However, heart-lung transplantation is usually considered only in cases of severely impaired quality of life because of the poor long-term prospects after transplantation.

Prevention

Patient education and eduction is the most decisive factor for the best possible outcome. Patients should not smoke to avoid further lung damage. Alcohol consumption should be kept moderate. Exercise and sports should be done only to the extent possible. Pregnancy should be avoided, as 50 percent of patients die during it. Especially good dental hygiene is important, as infections in the mouth can spread to the heart.

Follow-up care

In most cases, patients with Eisenmenger syndrome have no special or direct measures or options for aftercare. In this case, the disease must primarily be detected and treated at an early stage to prevent the occurrence of other symptoms or complications. In most cases, Eisenmenger’s syndrome significantly reduces the life expectancy of the affected person. Since it is also a congenital disease, genetic counseling can also be performed if the patient wishes to have children. This may prevent the inheritance of Eisenmenger syndrome. In most cases, those affected by this disease are dependent on surgical intervention and the use of medication. However, in this case, the surgery can only take place in childhood. In general, the affected person should not put unnecessary stress on his heart and should lead a healthy lifestyle. Alcohol and tobacco should also be avoided. When taking medications, it is always necessary to pay attention to the correct dosage and to the doctor’s instructions in order to alleviate the symptoms of Eisenmenger’s syndrome. In many cases, sufferers also rely on help from their family in their daily lives.

Here’s what you can do yourself

In cases of Eisenmenger syndrome, treatment is limited to palliative measures. Depending on how far the disease has progressed, those affected can take some measures themselves to alleviate the symptoms. Initially, however, bed warmth and rest apply, as the disease places an enormous strain on the entire body. In addition, patients should talk to their doctor regularly. During the conversation with the physician, unusual symptoms can be clarified and further treatment options can be discussed. As a rule, the physician will also recommend therapeutic counseling to the patient or establish contact with other affected persons. In particular, attending a self-help group can help seriously ill patients to better understand and accept the disease and the discomfort it brings. The individual symptoms can at least be alleviated by conservative measures. Headaches, fatigue and dizziness are best countered with a long walk or a nap. If breathing is difficult, the affected person should lie down and see a doctor promptly. In severe cases, with breathing difficulties and cardiovascular problems of any kind, emergency medical services should be called directly.