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Marfan Syndrome (Children)

Signs & Symptoms

Individuals with Marfan Syndrome typically exhibit distinctive physical characteristics, such as exceptional height, long fingers and flat feet. They may also experience spinal curvature (scoliosis) , myopia (short-sightedness) and skin stretch marks. The most severe cardiac complications include enlargement of the aorta and malfunctioning heart valves.

Aortic aneurysm, characterised by the stretching of the aorta, can lead to weakening and potential rupture, causing severe chest pain and, in extreme cases, circulatory failure and death.

Regular monitoring of the aorta's size through scans and managing blood pressure with medication are crucial preventative measures. Surgical replacement of the artery may be required if the risk of rupture is high. These interventions have significantly lowered the incidence of aortic rupture.

Valvular heart disease, particularly mitral valve prolapse, is another concern. While many cases are mild and do not require treatment, severe cases might require surgical intervention.

What causes it

Marfan Syndrome is a genetic disorder, often affecting multiple family members. It involves a defect in fibrillin, a protein that lends strength and flexibility to body tissues, affecting the elasticity of these tissues.

About the condition

A syndrome is characterised by a set of features common among individuals with the same condition, encompassing both appearance and medical issues. However, the expression of these characteristics varies, and it is unusual for an individual to have all associated traits.

The condition was first identified by Professor Antoine Marfan in France over a century ago. It has an occurrence rate of about one in 10,000 individuals.
Diagnosis and Treatment Options

Marfan Syndrome presents variably, with some individuals experiencing mild effects. In childhood, it rarely causes significant problems. Diagnosis can be challenging, as not all signs are present in every individual and there is no definitive test. Therefore, ongoing evaluation may be necessary to determine whether a child truly has the condition.

Care Tips

Dental Care

Good dental hygiene is essential, especially for children and adults with congenital heart disease, as poor dental health can lead to infections spreading to the heart. Therefore, regular dental check-ups are crucial.

Inform your dentist about the heart condition before any treatment. To prevent germs from entering the bloodstream and affecting the heart, a single dose of antibiotics may be given one hour prior to dental procedures.


Children who have Marfan Syndrome are advised to engage in light, low-impact physical activities, such as like golf and cricket, and refrain from contact sports.

Children who have Kawasaki disease with persistent coronary artery problems are advised to engage in light, low-impact physical activities, such as like golf and cricket.

Exercise is beneficial, even for those with heart conditions. It improves heart function, overall well-being and is associated with increased life expectancy and reduced heart disease risk in later life. It also aids in weight control and blood pressure reduction.

Different types of exercise, such as static (e.g., weight lifting) and dynamic dynamic (e.g., running), have varying impacts on the body and heart. Children with heart conditions should consult their doctor to determine safe levels and types of exercise, especially in school settings where physical activities can be intensive.


Most children with heart disease can follow standard vaccinations schedule. However, those with immune deficiencies, such as DiGeorge syndrome or an isomerism, or those who are receiving immunosuppression, such as post-transplantation, may require a modified vaccination schedule.

Travel Advice

Before travelling, especially long distances or to unusual destinations:

  • Have a recent medical check-up
  • Ensure appropriate insurance coverage
  • Carry an adequate supply of medication
  • Be informed about the local healthcare quality and accessibility
  • Carry relevant documentation about the heart condition  
  • For cyanotic heart disease patients, be aware of potential oxygen needs during flights
  • Use support stockings and take aspirin or equivalent unless your doctor advises against it


Special diets are not normally required for those with heart disease, but a balanced one is important. Maintaining a normal weight is crucial as excess weight increases the heart's workload.


Children with heart disease are generally not more prone to infections, although some may be susceptible to chest infections or have associated immune deficiencies, particularly those with holes in the heart (ASD, VSD, PDA). Viral infections are common and usually resolve without antibiotics, but medical advice should be sought in case of uncertainty.


Not all children with heart disease require medication. Those who do may need it for fluid reduction, aiding heart pumping, rhythm control or blood thinning.

While these medications are generally safe, side effects can occur, especially with other illnesses or medication changes. Any unusual symptoms or side-should be promptly reported to the doctor.


Most women with heart disease can have a normal pregnancy and delivery. Exceptions may include those with severe cyanosis or pulmonary hypertension, where pregnancy can pose significant risks.

It is essential to seek medical advice before pregnancy so the process can be monitored, and if treatment is necessary, it can be provided early.

The risk of heart disease in offspring varies, with some evidence suggesting that vitamin intake before and during early pregnancy may reduce risks.

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