Marfan syndrome

What is Marfan syndrome?

Marfan syndrome is a clinical pathology of genetic cause that is characterized by a disorder in the growth of the connective tissue, which is the one that strengthens the body structures. It mainly affects the skeletal system, the eyes, the skin and the cardiovascular system. It can also affect the lungs, the eyes and, especially, the heart, where it can cause stretching or weakening of the aorta, known as aneurysm or aortic dilatation.

What are the symptoms?

The physical appearance of people suffering from this syndrome is very characteristic that they have a tall stature with disproportionate hands and feet. In addition, they also have great flexibility, deviation of the spine (scoliosis) and a narrow, thin face, often with a small jaw.

Other symptoms are:

  • Flat feet
  • Arched palate and crowded teeth
  • Hypotonia
  • Sunken or prominent thorax
  • Myopia
  • Learning difficulties
  • Movement of the lens of the eye from its normal position (dislocation)
  • Chronic pain in muscles and joints

Causes of Marfan syndrome why it occurs

It is caused by defects in a gene called fibrillin-1, which is a key gene for connective tissue in the body. In most cases, Marfan syndrome is inherited and passed down through families. However, up to 30% of patients have no family history.

Can it be prevented?

The gene mutations that cause Marfan syndrome cannot be prevented.

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What is the treatment?

It is important to treat visual problems and scoliosis. Drug treatment can slow the heart rate to help prevent stress on the aorta artery. Some people may need surgery to replace the valve and aortic root.