Marfan Syndrome

What is Marfan Syndrome?

Marfan syndrome is a disorder that affects the connective tissues of your organs and body structures. These connective tissues exist between two organs and support them. This is an inherited disorder and usually affects heart, eyes, blood vessels and skeleton. Those with Marfan syndrome are usually tall, thin and with disproportionately long fingers, legs, arms and toes.

Although the severity of the damages caused could range from mild to severe, it could be life-threatening if the aorta, the blood vessel that supplies blood from your heart to all other parts, gets affected by Marfan syndrome.

Symptoms

The symptoms of Marfan syndrome tend to vary a lot within members of the same family depending on the area affected in the disorder. Usually, the complications worsen with increasing age. People with Marfan syndrome may have:

  •  Slender and tall built
  • Long arms, legs and fingers which are disproportionate
  • Arched and high palate
  • Crowded teeth
  • Murmurs in the heart
  • Spine that is curved abnormally
  • Flat feet
  • Breastbone protruding outward
  • Breastbone dipping inward
  • Extremely nearsighted

 

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Causes

Marfan syndrome is caused by a defect in your genes that is responsible for producing proteins of the connective tissues. These proteins are responsible for the elasticity and strength of the connective tissues. Mostly, Marfan syndrome is passed on from parent to child. A child being born to a parent with the syndrome will have 50% chance of being born with the defect. But in some cases, the baby develops the syndrome owing to genetic mutations, even when neither parent has Marfan syndrome. Marfan syndrome is known to affect people of all races, genders and ethnic groups. Because the problem lies in the genes, the greatest risk factor is when you have a parent with the disorder.

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Risks

Marfan syndrome is a genetic disorder and you would be at risk if you have a parent with the same disorder.

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Prevention

Although prevention is not possible owing to genetic causes, you could take certain precautionary measures such as:

  • Staying fit by eating healthy food
  • Exercising regularly
  • Following medications to prevent clotting of blood

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How is it diagnosed?

It could be difficult for doctors to diagnose Marfan syndrome, because many disorders in connective tissues have similar symptoms and signs. Following procedures may be used for diagnosing Marfan s...

How is it treated?

Our doctors at Medanta may use the following methods to treat Marfan syndrome:

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  • Medication

    Used to lower blood pressure, to prevent the enlargement of aorta and decreasing the chances of rupture. Beta blockers are used to decrease the rate of heart beat and with lesser force. Losartan is a new medication technique used to protect the aorta.

  • Eye therapy

     If your lenses are dislocated, they can be treated using glasses and contact lenses.

  • Surgical therapy

    Your doctor might recommend a surgical replacement of the aorta, if the diameter of your aorta enlarges quickly or is about 5 centimeters in size. It is replaced with a synthetic tube, to prevent threatening ruptures. It might also be required to replace the aortic valve.

    Your doctor might recommend scoliosis treatment, which involves the implantation of custom-made braces for the back of a child or an adolescent. This needs to be worn until growth gets completed. Else, if the curvature of the spinal cord is too high, it might have to be surgically corrected.

    If the breastbone is dipping inward or protruding outward, it can be corrected using surgical procedures.

    If the connective tissues of the eye are damaged, then they can be held together by using surgeries. If you have cataracts, the cloud caused in the cataract can be replaced with artificial lens during the surgery.

When do I contact the doctor?

If either of your parents is diagnosed with Marfan syndrome, you need to get screened for it right away.

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