Marfan Syndrome

By: Sammie Jo Leach

Definition of birth defect:

Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.


Causes:

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. 

3 Facts/Statistics About the Birth Defect:

  1. Most people who have Marfan syndrome inherit it from their parents.
  2. A tall, slender build is characteristic of Marfan syndrome.
  3. Marfan syndrome affects the skeleton, eyes, heart and blood vessels, nervous system, skin, and respiratory system.

Detection:

People with Marfan syndrome are born with it, but features of the disorder are not always present right away.

 Some people have a lot of Marfan features at birth or as young children – including serious conditions like aortic enlargement. Others have fewer features when they are young and don’t develop aortic enlargement or other signs of Marfan syndrome until they are adults. Some features of Marfan syndrome, like those affecting the heart and blood vessels, bones or joints, can get worse over time.

Detection Cont.:

People with Marfan syndrome are born with it, but features of the disorder are not always present right away.

Some people have a lot of Marfan features at birth or as young children – including serious conditions like aortic enlargement. Others have fewer features when they are young and don’t develop aortic enlargement or other signs of Marfan syndrome until they are adults. Some features of Marfan syndrome, like those affecting the heart and blood vessels, bones or joints, can get worse over time.

Treatment:

While Marfan syndrome is a condition that cannot be cured, you can live a long, full life with proper treatment and management. Everyone is different, depending on how severe or mild their features are.

In general, you can expect some things you need to think about every day, such as medications and limitations on physical activity. Then, there are routine doctor appointments, which may be yearly or more frequent, as well as other evaluations to make sure that your symptoms are not worsening. Sometimes, when symptoms progress, your doctor will recommend surgery. In some cases, you will have time to plan for an operation; in other cases, immediate surgery may be needed.

Personal Story:

https://www.youtube.com/watch?v=MHK5nZV4XN0

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Public - 12/1/16, 6:47 PM