Marfan Syndrome

Leticsha Elkins

Introduction

I choose Marfan Syndrome. I did this because I had no idea what it was and I wanted to learn something new.

What is it?

Marfan syndrome is a heredity disorder that affects the connective tissue, this results in abnormally long and thin limbs. People with Marfan Syndrome have weak connective tissue, this usually causes many problems with their heart, eyes and joints. This disease makes for very loose and flexible joints. This disease is never the same for anyone who has it.

Symtoms

Symtoms varie with every person who has Marfan Sydrome, but most of the time their symptoms will include some of the following:

  • Long arms, legs, and fingers
  • Tall and thin body type
  • Curved spine
  • Chest sinks in or sticks out
  • Flexible joints
  • Flat teeth
  • Crowded teeth
  • Stretch marks on the skin that are not related to weight gain or weight loss

Causes.

Marfan Syndrome is a mutation. This mutation happens in a gene that determines the structure of a protein called "fibrillin-1". This protein is an important part of the connective tissue. You are born with Marfan Syndrome even though it may not be diagnosed until later in your life.

How is this disorder inherited?

A child who has Marfan can either get it through inheritance (75% of the time) or it can be caused by something that happened in the womb (25% of the time). This gene is inherited in a autosomal dominant pattern and is gene linked. This disease is carried on chromosome 15. 25% of the time, this genetic disease happens while in the womb. This means the mutation either happened in the egg or the sperm cell. As of now no one knows what causes this mutation inside the egg or sperm cells.

Treatment

Marfan Syndrome does not have a cure. However, there are treatments that can slow down some of complications that occur with Marfan Syndrome.


  • Aortic dilation- This is a problem linked with your heart. The aorta in your heart stretches and grows weak. If you have this you will need surgery to replace the dilated segment before it tears.
  • Scoliosis- This means that you have a curved spine. Your doctor may request that you wear a brace to keep your spine from worsening, but if it is too bad you may have to get surgery to get it repaired.
  • Sinking chest- Some people with Marfan have a chest that sinks in. If too severe the patient may need surgery. The surgery is to keep the chest from sinking inward to much and crushing the lungs and other important internal organs.
  • Pneumothorax- This is a collapsed lung. This condition causes gas or air to build up in your lungs. Sometimes, this will go away on its own, but other times the patient will need a tube placed through your skin and chest wall to remove the air.

Diagnoses

Sometimes it is very hard to diagnose Marfan Syndrome because symptoms can be very different from person to person. A genetic test can be done to help diagnose Marfan Syndrome. This test is time consuming, expensive, and can sometimes be very hard to use because the affected gene can mutate in about 1,000 different ways making it difficult to find this mutated gene. Usually, the physician will try to give a physical examination and/or looking deep into the patients and families medical history.

Population Effects

Marfan Syndrome is one of the most common inherited diseases of the connective tissue. This disorder is rare affecting only 1 of every 3,000 people. Men and women are both equally affected by this disorder. Marfan Syndrome is not found to be linked to any kind of area or ethnicity.

What I discovered...

In the beginning I choose Marfan Syndrome because it was something that I had never heard of before, I wanted to do something different. Through this research project I have learned a lot of new things, partly because I knew absolutely nothing about it to begin with. I have learned what signs are shown, how they diagnose it, what patients cannot do, how it is inherited and so much more!
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