Marfan Syndrome
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What Marfan Syndrome is?

Marfan Syndrome is a genetic disorder of the connective tissue.Connective tissue is the tissue which strengthens the structure’s of body. The disease can occur in many body parts –cardiovascular system , eyes, skin , cardio system , blood vessels , joints.

Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin. Marfan’s syndrome results from a gene mutation that leads the body to overproduce a particular protein—called transforming growth factor beta (TGF-β)—causing problems in connective tissue that holds all bodily cells, organs and tissue together.

What are the signs that suggest a person may have Marfan?

  • Flat feet , thin face , tall
  • Learning disability
  • Eyes -Nearsightedness ,astigmatism
  • Eyes -Early onset glucoma , dislocation of one or both lens
  • Scoliosis
  • Chest –funnel chest ( pectus excavatum) / pigeon breast (pectus carinatum)
  • Fatigue
  • Cardiovascular system -Shortness of  breath , heart palpitations , rapid heart beat
  • Cold arms, hands and feet
  • Lower back pain , abdominal pain
  • Sleep apnea
  • Snoring
  • Stretch marks on skin
  • Weakness in legs

Is Marfan disease fatal?

Marfan’s disease used to always be fatal—a person wouldn’t normally live past the age of 45. An aortic dissection weakens the vessel’s structure and can result in a rupture, which may be fatal. Valve malformations. People who have this genetic disorder also are more likely to have problems with their heart valves.

What happens to the body during Marfan syndrome?

This syndrome affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and covering of the spinal cord. Because the condition affects many parts of the body, it can cause many complications. Sometimes the complications are life threatening.

Can you have children if you have Marfan syndrome?

If you or a family member has Marfan syndrome, talk to a genetic counselor to learn about the chances of your baby having it. People with this genetic disorder can have a range of health problems and may need special medical care.

Is there a cure for a Marfan syndrome?

There is no tretament for Marfan syndrome and the main focus is on managing symptoms and reducing the complications .

  • Regular monitoring of heart
  • Anti-coagulant remedies
  • Intravenous anti-biotic therapy
  • Estrogen and progesterone therapy
  • Surgery
  • Eyeglasses and contact lenses to correct myopia

What age can Marfan syndrome be diagnosed?

The Marfan syndrome, a generalized inherited disorder, is usually diagnosed in young patients and is associated with a poor prognosis.

How do you test for Marfan syndrome?

The disorder can be challenging for doctors to diagnose because many connective tissue disorders have similar signs and symptoms.

One of the first tests he or she may recommend is an echocardiogram. This test uses sound waves to capture real-time images of your heart in motion. It checks the condition of your heart valves and the size of your aorta.

Is Marfan syndrome common?

It is one of the most common inherited disorders of connective tissue.

Is there a genetic test for Marfan’s?

Genetic Testing and Marfan Syndrome. Genetic testing for mutations in fibrillin-1 (FBN1) and other genes has become an important and reliable option to aid in the diagnosis of Marfan syndrome and related disorders. However, the results of genetic testing for the diagnosis of disorders are not always straightforward.

What is the main cause of Marfan syndrome?

Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body’s connective tissue. Most people who have this disorder inherit it from their parents.

What are the chances of getting Marfan ?

About 75% of the time, the gene chance (mutation) for Marfan syndrome runs in families, getting passed down to children from parents who have the disease. A child born to a parent who has Marfan syndrome has a 50% chance of having the disease too. In the remaining 25% of cases, though, neither parent has the disease.

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