Eisenmenger syndrome: symptoms, causes, treatment and outlook

Patient's clinical reference defines Eisenmenger syndrome as obstructive pulmonary vascular disease that develops as a consequence of a large pre-existing left-to-right shunt. Put simply, a large hole or connection in the heart means that extra blood is pushed through the lungs from birth. Over time the lung arteries become damaged and the pressure in them climbs towards the pressure in the rest of the body, so the direction of blood flow through the hole reverses.

The NHS describes pulmonary hypertension as high blood pressure in the blood vessels that supply the lungs, where the walls of the arteries become thick and stiff. The reduced blood flow makes it harder for the right side of the heart to pump, which can gradually weaken it and lead to heart failure. Eisenmenger syndrome is one cause of this.

Leeds Teaching Hospitals says that low oxygen levels (cyanosis) can cause a range of symptoms that vary a lot from person to person. Many people feel very well for years. Some are short of breath on exercise and generally tired, and chest pains occur from time to time but are not usually a sign of major problems.

Palpitations, fainting and coughing up blood are described as important symptoms that you should always tell your doctor about.

• A blue tinge to the skin and lips (cyanosis).

• Breathlessness and tiredness on exercise.

• Headaches, loss of concentration, pains in the arms and legs and pins and needles, from thicker blood.

• Palpitations, dizziness and fainting from heart rhythm problems.

• Swollen ankles and tummy and more breathlessness when the right side of the heart tires (heart failure).

• Coughing up blood.

• Patient's reference adds clubbing of the fingers and toes, chest pain and exercise intolerance proportional to the degree of low oxygen.

Patient says early development of Eisenmenger syndrome is more commonly associated with persistent truncus arteriosus, common atrioventricular canal, ventricular septal defect (VSD), patent ductus arteriosus (PDA) and transposition of the great arteries. It is less common and occurs later in life in people with a large secundum atrial septal defect (ASD). The high pulmonary resistance is usually established by early childhood and can sometimes be present from birth.

Patient also notes that in developed countries cardiac defects are being operated on in a timely manner, before pulmonary vascular disease develops, which is why Eisenmenger syndrome is now uncommon in the UK.

Patient's reference lists the usual initial investigations: blood tests (including blood count, kidney function, uric acid, liver tests, ferritin and a clotting profile), oxygen saturation at rest and sometimes with exertion, an ECG, a chest X-ray and an echocardiogram. Further tests may include MRI, a CT scan of the chest if there is coughing up blood, and heart catheterisation to measure lung artery pressures and resistance.

The NHS notes that diagnosing pulmonary hypertension can take time because symptoms are similar to those of many other heart and lung conditions, and says the tests include an echocardiogram and right heart catheterisation. Examination findings described by Patient include cyanosis, clubbing, a right ventricular heave and a loud second heart sound.

Leeds says there is no cure at present, and treatment is tailored to each individual. It lists blood thinners to decrease the chance of clots, water tablets (diuretics) to reduce fluid and take pressure off the heart, and medicines that lower the pressures in the lungs. The lung-pressure medicines are prescribed and delivered by a specialist unit, and some need blood tests every few months.

Patient lists treatment for the lung artery pressure with endothelin receptor antagonists such as bosentan or macitentan, and phosphodiesterase type 5 inhibitors, with prostanoids used as third-line therapy. It says anticoagulation is controversial and considered case by case, and that routine venesection (removing blood) has no place in treatment because it can worsen iron deficiency. Heart-lung transplant may ultimately be indicated.

The NHS adds that if another condition is causing pulmonary hypertension it should be treated first, and that home oxygen therapy may be prescribed if oxygen in the blood is low.

Leeds says pregnancy is not recommended and carries a risk to the mother's life of up to 50%, so a reliable method of contraception should be used. It says the combined oral contraceptive pill should be avoided, but there are plenty of other progestogen-only preparations that are very effective.

Patient explains that pregnancy lowers resistance in the body's circulation, increasing the right-to-left shunt and low oxygen, and carries a perinatal fetal loss or morbidity of about 30%. If you are pregnant or think you might be, contact your specialist team urgently.

Leeds says all people with congenital heart disease are at risk of infection in the heart (endocarditis), most commonly through the mouth. It recommends good dental hygiene, visiting the dentist every 12 months, antibiotic cover shortly before invasive dental treatment, and avoiding body piercing and tattoos. It notes that oxygen is not usually needed for flying but may be considered on a long-haul flight, and that you should declare the heart condition when booking holiday insurance.

Patient advises avoiding dehydration, smoking, excessive physical activity and needless high-altitude exposure, and telling your cardiologist if you need non-cardiac surgery or have a serious illness or injury. Leeds signposts the Somerville Heart Foundation and the British Heart Foundation for support.

The NHS says to call 999 or go to A&E for sudden chest pain that does not stop after a few minutes, or heart palpitations with chest pain, shortness of breath or feeling faint. Leeds says palpitations, fainting and coughing up blood should always be reported to your doctor, and large amounts of blood coughed up need emergency care.

Patient lists complications including stroke, transient ischaemic attacks, paradoxical emboli, brain abscess and infective endocarditis. New weakness on one side, speech or vision loss, or a persistent fever need emergency assessment: call 999 or go to A&E.

Patient says Eisenmenger syndrome has a better prognosis than other forms of pulmonary arterial hypertension but still greatly affects quality of life. It gives estimated 5-year survival of 74% to 81% and 10-year survival of 57%, and lists sudden cardiac death, progressive heart failure and infection as the leading causes of death. Factors linked to higher mortality include lower oxygen saturation, fainting, iron deficiency, arrhythmias and hospitalisation for heart failure.

These figures are population estimates from a clinical reference and do not predict an individual's course. The specialist in charge of care can give more specific information.

Eisenmenger syndrome is managed through specialist adult congenital heart disease and pulmonary hypertension services on the NHS, with the GP supporting day-to-day care and blood tests. Because the condition is rare and complex, treatment is concentrated in a small number of specialist centres.

Private cardiology opinions are possible, but the specialist medicines and monitoring are generally delivered through the specialist NHS units, so it is worth ensuring any private advice is shared with that team.