Eisenmenger Complex is the term used to describe the resultant effects of prolonged pulmonary hypertension in patients with uncorrected congenital heart defects, which eventually results in a reversal of the shunting of blood within the heart (see Pulmonary Hypertension Topic Note), so that it goes from right to left.
The effect of this right to left shunting, is to pump blood from the right side of the heart through the septal defect(s) (hole or holes in the central heart wall) and into the left side of the heart which takes blood to the body. Thus a proportion of blood bypasses the lungs and is not oxygenated, so the level of oxygen (saturation) in the blood decreases and the patient is cyanosed (blue).
A patient with Eisenmengers can experience 'blue spells', dizziness and faints, breathlessness and chest pain. They can be prone to having small strokes, or can cough up blood.
In order to compensate for the low oxygen levels (saturation) in the blood, the body may produce too many red blood cells (the cells which take the oxygen around the body). This excess of red blood cells is called Polycythaemia. It causes a thickening of the blood, headaches, chest, joint and muscle pain. It can also cause visual disturbance and thrombosis (clots of blood) and embolism (moving blood clots).
The treatment for Eisenmengers and any other person with Pulmonary Hypertension has developed rapidly in the last 5 years. As well as the standard treatments, there are now newer and more effective medicines which may improve quality of life, so all patients should be seen by an expert in Pulmonary Hypertension.
These medicines, such as Furosemide (Frusemide, Lasix) are sometimes used to assist the body ridding itself of excess fluid which might build up when the heart gets tired. This fluid is seen as swelling of the ankles or a swollen liver.
The use of oxygen can be effective in reducing the workload on the heart. It has very little effect on reducing the blue lips, but if used overnight, it can help people sleep better and gives their body a boost for the following day. It can be given via mask or nasal cannula either from a concentrator machine, cylinders of oxygen or small bottles of liquid oxygen. (see Oxygen Therapy Topic Note)
This is rarely used now, but in some people it can help the right pumping chamber (ventricle) pump better and make their heart rhythm more regular.
The effect of Eisenmenger is to make the person more blue and the body responds by making more blood cells to carry the oxygen around. Venesection is a procedure where some of the blood is removed from one arm and usually fluid is given at the same time in the other arm to balance the fluid levels.
Venesection is not recommended for most people and it has to be undertaken very carefully if needed. Ask your Pulmonary Hypertension specialist if it is needed.
These work by making the blood thinner and less likely to clot, however, many people with Pulmonary Hypertension have low platelet counts and are more likely to bleed. So, in general, anticoagulants are not recommended for people with Eisenmenger Syndrome.
All people with pulmonary hypertension should not get pregnant without advice, hence it is important to consider proper contraception if the person with Down’s syndrome is sexually active.
Your pulmonary hypertension specialist will be happy to talk you through the treatment options and will explain the risks and advantages. The medicines are being developed quite quickly, so there will be newer ones than discussed here. All these medicines can only be prescribed by your pulmonary hypertension specialist. A GP or cardiologist is not allowed to prescribe them because they are very expensive.
This is the most straightforward of the medicines. It is the same medicine as used for erectile dysfunction but has been renamed for pulmonary hypertension. It works by opening out the lung arteries and making it easier for more blood to go to the lungs and become pink.
This is an expensive and newer medicine, but well tried and tested by proper trials. It also works by opening out the lung arteries and it may help the lung arteries to remodel into a better shape. It is necessary to have a monthly blood test to check the liver function. There are newer versions of this which are less tried and tested, but which only need to be taken once a day and have less effect on the liver (Ambrisentan etc)
This is a very expensive drug which is taken by breathing it in. The advantage is that it is very good but you have to breathe it in about every 3 hours with a machine called a nebulizer (ultrasonic or by compressed air) - rarely it is given intravenously. Only very few patients will qualify for this medication. Similarly there is an intravenous form called Epoprostenol, but this is even more expensive. It is often not suitable for patients with Down’s syndrome and Eisenmengers, since you have to have an indwelling central line in a vein and there is risk of blood clots passing to the brain.
Follow up Advice
It is important that patients with Eisenmengers are seen by a Pulmonary Hypertension specialist if there is a wish for more treatment. They should avoid becoming dehydrated since this will make the blood even thicker.
Whilst there is no treatment to cure the underlying problem, the treatments mentioned above may be quite effective in helping to lessen the symptoms. Although there is of course variation in patients, it is possible for someone with Down’s Syndrome who has Eisenmengers Complex, to survive for many years with a quite reasonable quality of life, although probably with reduced activity levels.
"When he was sixteen, after a long consultation with the cardiologist, we declined a heart operation, having been told that he had possibly only a fifty per cent chance of survival. Life has had many ups and downs over the years, and I cannot pretend that things have always been easy. He is still ill at times, he is blue and gets breathless and tired, but he seems to enjoy life to the full. We celebrated his twenty-first birthday with a big party and disco for family and friends, and a year later he was best man at his brother's wedding, and looked extremely smart in his grey tail suit and waistcoat".