Marfan Syndrome in Children: Everything You Need to Know


Named after Antoine Marfan, a French doctor who discovered this condition. The problem lies in the body’s connective tissue. Connective tissue is among the four basic and important animal body tissue. Connective tissue is the one which acts as a fixative agent among all the body cells. In this condition this glue is relatively weaker and there is resultant defects in other bodily system. In these children especially the trouble is in the heart, eyes and bones.

Such children have common characteristic like

  • lean and thin body
  • too tall for their age
  • arms and legs slender and long
  • wear spectacles at an early age (nearsightedness)
  • often develop a curve in their spine or their chest bones

The good news is that even though Marfan syndrome has no cure, still doctors can treat many of its vivid symptoms. If the kids get good medical care, treatment and the diagnosis is made early, they can live long, happy lives.

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A  Guide for Marfan Syndrome in Children

marfan syndrome

Causes of marfan syndrome in children

Marfan syndrome is a genetic disorder and caused by an abnormal gene. The affected gene FBN1 present on the chromosome is faulty or absent. It is responsible to make a protein in the connective tissue called fibrillin-1. The abnormal gene does occur as follows:

  • In about 3 out of 4 cases, the abnormal gene is inherited from an affected parent. Inheritance is in the form of something called as autosomal dominant inheritance.
  • Rarely, the abnormal gene is formed due to a new mutation. It is not inherited from either of the two parents. Researchers believe this is more often when the father is older than 45. The child can further pass the abnormal gene on.

Rate of occurrence of Marfan syndrome is equal in both boys and girls. It also has prevalence in all races, creed and religion and is not restricted to certain group of people.

And a child is more likely to have Marfan syndrome if he or she has a parent with the disorder.

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Symptoms of marfan syndrome in children

The symptoms of Marfan syndrome may vary greatly, even among the same family. Symptoms can be varied from mild to severe. Some children may not have symptoms early in their life. But as they grow, they develop common Marfan symptoms, traits and characteristics.


If you have a family history of Marfan syndrome, let your doctors know about this right when you are pregnant so they can later check your newborn for signs of the condition.Newborns who have signs of Marfan may have a greateror more serious heart problems than children diagnosed at older ages.

They may have any of these problems:

    • Mitral valve prolapse (valves are “floppy”, slack and don’t close right)
    • Blood leaks backward through a defective heart valve (regurgitation)
    • Breathing problem

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In children of age 12, the common symptoms are

    • Tall and thin frame
    • Long, slender fingers, thumbs and toes
    • Breastbone caving inward or pushes forward
    • Loose joints
    • Scoliosis
    • Flat feet
    • Vision problems


Many of the traits of Marfan syndrome may be quite mild early in life and become more noticeable as your child grows. Along with the common traits listed above, other signs and symptoms the doctor will look for are:

    • Heart murmur
    • Arrhythmia
    • Shortness of breath
    • Chest pain during activity

Diagnosis of Marfan syndrome in children

To diagnose this condition, your doctor will do a complete examination for the physical traits of Marfan syndrome. The doctor will ask about your child’s history and your family’s history. The doctor will also do the following test regularly:

  • Electrocardiography (ECG). This test records the electrical activity of heart. It will detect any abnormal heart rhythms (arrhythmias).
  • EchocardiographyAn examination of the heart that uses sound waves. This moving pictures of the heart.
  • A complete eye examination that includes the inside of the eye too.
  • Computerized tomography or magnetic resonance imaging also known as CT or MRI scans. These areimaging tests that check for abnormal bones or joints.
  • FBN1 gene testing in the blood for the abnormal gene.

Early diagnosis is important and will help in your child’s future health betterment. When Marfan syndrome is diagnosed early, the doctor will watch your child for problems that may require attention and treatment.

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Treatment of Marfan syndrome in children

Not all children with Marfan syndrome need treatment. But in this condition the child will need lifelong care and proper monitoring. Different symptoms will appear as your child grows, so the doctor will also want to watch them carefully and regularly. Children will be prescribed with medicines that will lower their heart rate or blood pressure. Children who have major problems with their heart, its valves and aorta may even need surgery.

Prevention of Marfan syndrome in children

  • Do not stress your child with strenuous activity
  • Avoid sports which can increase work load on heart
  • Exercise within their limits


Instead of relying on pharmaceutical medicines, you should opt for natural alternatives to help your child which include:

  • TurmericIts active ingredient, curcumin, possesses potential anticoagulant properties.
  • Cinnamon: This popular cooking ingredient contains coumarin, which is the source of its anticoagulant qualities. It is also helpful in inflammation of joints and in lowering blood pressure.
  • Fish: Fatty fish such as salmon contains huge amounts of omega-3 fatty acids, which is an essential nutrient vital for many biological functions. In addition, omega-3 fatty acids helps to protect the heart by lowering risk of developing blood clots that can clog arteries.
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