Signs & Symptoms
People with Marfan Syndrome are usually exceptionally tall with long fingers and rather flat feet. They may have a spinal curve (scoliosis) and be shortsighted. The skin may develop stretch marks. The two heart problems that are most serious are enlargement of the main body artery and leaky heart valves.
When the main body artery stretches (aortic aneurysm) it becomes weaker and blood can leak through the wall (dissection or rupture). This causes severe chest pain and if the blood leak is rapid the circulation can fail and the patient may die. To prevent this happening it is important to monitor the size of the aorta with regular scans and to reduce the pressure within it with medication. If the artery is so large that it in danger of leaking it is replaced with a special tube. These measures have vastly reduced the chances of aortic rupture occurring.
Another heart problem that can occur is leaking of the heart valves. One of the most common heart problems is called mitral valve prolapse. The leaks are often mild and require no treatment but sometimes surgery is necessary.
What causes it
Marfan Syndrome a genetic condition and so there are often several people in the family affected.
The underlying problem involves the elasticity of body tissues. Fibrillin is the substance which gives tissues their strength and flexibility and this is defective in people with Marfan syndrome.
About the condition
When a person has a syndrome they have similar characteristics to others with the same syndrome. This may include their appearance and medical problems. Syndromes are variable and it is unusual for someone to have all the characteristics - they may therefore be only slightly affected.
Professor Antoine Marfan from France described this condition over 100 years ago. It affects about 1 person in every 10,000.
Diagnosis and Treatment Options
Marfan syndrome is a variable condition with some people only very mildly affected. In childhood it rarely causes difficulties. Sometimes it can be difficult to be sure whether or not the condition is present as not everyone has all the signs and there is no reliable test - if this is the case then it may be necessary to review the children as they grow older to see if they truly have the condition or not.
Children and adults with congenital heart disease are at an increased risk of having a heart infection. Whilst this is rare the chances of it occurring can be reduced by taking precautions.
Infections in the heart can occur for no apparent reason but are more common if the teeth are rotten - germs spread into the blood stream and infect the heart. Good dental hygiene is therefore important as are regular visits to the dentist.
If dental treatment is required then some procedures can cause germs to spill into the blood and infect the heart.
It is therefore important that the dentist is informed about the heart condition before treatment. The usual method of avoiding this problem is to give a single dose of antibiotics one hour prior to the treatment to kill any germs beforehand.
Children with Marfan Syndrome are restricted to light exercise (like golf, cricket) and should exclude contact sports.
Exercise is important even in those with heart disease. It improves the heart function and general sense of well being. It is associated with increased life expectancy and a reduced risk of heart disease in later life. In addition physical activity helps with controlling weight and reducing blood pressure.
There are different types of exercise. In static exercise the muscles contract but there is little joint movement eg weight lifting. In dynamic exercise the muscles contract and also move the joints eg running. Each places a different stress on the body and cardiovascular system. In general most types of sports are a mix of the two.
Children usually take part in more rigorous exercise at school as they grow older. In Singapore physical education (PE) tends to teach games skills rather than competitive sports. However pupils may take sport for their co-curricular activities (CCA) when training is more intense and competitive. Training for the NAPFA test is also intensive and some pupils with heart problems may have difficulty with the 2.4k run as they often perform less well at endurance type activities.
As always parents or patients must seek the advice of their own doctor when deciding how much exercise and to what level is safe - particularly as there are no published guidelines for activity levels in children
The Bottom Line
- Most children with heart conditions (even following surgery) can safely participate in sport at all levels
- Some children with complex heart problems should restrict themselves to certain sports only
- For a few children competitive sport should not be undertaken
- For all a certain level of fitness is healthy and should be encouraged
Most children with heart disease can have all the normal vaccinations at the appropriate time.
However some children with an immune deficiency (DiGeorge syndrome or an isomerism) and those who are receiving immunosuppression - for example following transplantation require a different vaccination schedule.
Before travelling anywhere unusual or a long distance make sure that you:
- have a recent medical check up
- have appropriate insurance cover
- have an adequate supply of medicine
- are aware of the quality and access to local health care
- carry the relevant documentation about the heart condition
Those with cyanotic heart disease ("blue" due to reduced oxygen in the blood) can still travel but aircraft at altitude have less oxygen in the air than at ground level and so the blueness may be more apparent. This does not usually cause symptoms but if necessary airlines can arrange for additional oxygen to be available on the aircraft.
For long aircraft flights it is sensible to use the support stockings and take aspirin or an equivalent unless your doctor advises against it.
Special diets are not normally necessary for those with heart disease. As with everyone it is important to have a balanced diet and not to eat to excess. It is however important to maintain a normal weight - excess weight means more work for the heart.
Most children with heart disease are no more prone to infections than any other children. Some however are likely to get chest infections - particularly those with holes in the heart (ASD, VSD, PDA).
In addition some heart diseases are also associated with an immune deficiency and infections therefore are more common. The majority of childhood infections are viruses and get better without antibiotics. In any case of doubt professional medical help should be sort and the doctor will decide if antibiotics are necessary.
Most children with heart disease do not require medication. Some however need them to:
- reduce the body fluids
- assist the pumping action
- control rhythm problems
- thin the blood
The majority of these medicine have been used for many years and are very safe but like all drugs side effects may occur - especially if there is another illness or a change in other medication. If unusual symptoms or side-effects occur whilst on medication it is important to inform the doctor immediately.
Most women with heart disease are able to undergo a normal pregnancy and delivery.
The exceptions are those with severe cyanosis when there is usually insufficient oxygen in the blood supply to the placenta to sustain the baby. Most of these pregnancies spontaneously abort.
Women with pulmonary hypertension (high lung artery pressure) are not usually advised to get pregnant as there is a serious danger to their life.
As with any medical problem it is essential that medical advise is taken - preferably before the event so that the pregnancy can be monitored and if treatment is necessary it can be undertaken early.
If a women herself has a heart problem then there is an increased risk that her child will have a problem too. The risk is around 6%. If a man has a heart problem then the risk is 2%. If the couple have had a previously affected child then the risk is about 2%. The risks quoted above are averages - the actual risk varies considerably between the various heart conditions. There is also some evidence that taking vitamins for 3 months prior to and the first 3 months of the pregnancy can reduce the chance of heart disease occurring in the baby.