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Cardiovascular Genetics Clinic

Cardiovascular Genetics Clinic

Cardiovascular Genetics Clinic
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Cardiovascular Genetics Clinic

Conditions

Conditions

Conditions

  • Hypertrophic Cardiomyopathy
  • Dilated Cardiomyopathy
  • Marfan Syndrome
  • Familial Thoracic Aortic Aneurysm Dissection
  • Familial Hypercholesterolemia
  • Hypertrophic Cardiomyopathy
  • Dilated Cardiomyopathy
  • Marfan Syndrome
  • Familial Thoracic Aortic Aneurysm Dissection
  • Familial Hypercholesterolemia
  1. Home
  2. Cardiovascular Genetics Clinic
  3. Conditions
  4. Marfan Syndrome

Marfan Syndrome

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What is Marfan syndrome?

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.

How does Marfan syndrome affect families?

About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child.

What are the symptoms?

Every person’s experience with Marfan syndrome is slightly different. No one has every feature and people have different combinations of features. Some features of Marfan syndrome are easier to see than others. These include:

  • Long arms, legs and fingers
  • Tall and thin body type
  • Curved spine
  • Chest sinks in or sticks out
  • Flexible joints
  • Flat feet
  • Crowded teeth
  • Stretch marks on the skin that

are not related to weight gain or loss

Harder-to-detect signs of Marfan syndrome include heart problems, especially those related to the aorta, the large blood vessel that carries blood away from the heart to the rest of the body. Other signs can include sudden lung collapse and eye problems, including severe nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts. Special tests are often needed to detect these features.

What treatment is there for Marfan syndrome?

Resources

The Marfan Foundation - www.marfan.org

Genetics Home Reference - www.ghr.nlm.nih.gov

The American Heart Association - www.heart.org

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