1. Marfan Syndrome Melanie Dragomire Dr. Williams NS215

2. Marfan Syndrome
This is my younger brother, Jared, when he was 11-years-old he was diagnosed with Marfan Syndrome.
Marfan Syndrome is the most common connective tissue disorder. And it can affect both males and females of all ethnic groups. Only about 1 in 5,000 people are born with this disorder.

3. What is Marfan Syndrome?
Marfan Syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development.
But in the bodies of people with Marfan Syndrome the connective tissue is defective and does not act as it should.

4. What Marfan Syndrome affects
A person with Marfan Syndrome may exhibit long limbs and spider-like fingers, chest abnormalities and curvature of the spine.
The most significant of the defects in the syndrome are cardiovascular abnormalities, which may include enlargement (dilatation) of the base of the aorta.

5. Cardiovascular Abnormalities
Valves in the heart may not close properly and may let blood leak backward. The aorta, the large artery that carries blood away from the heart out to the body, may stretch and enlarge, and it can burst. The aorta also can develop a tear in its inner wall. This tear can expand and block blood flow through the aorta. This is called aortic dissection.

6. What Causes Marfan Syndrome?
Marfan syndrome is caused by mutations in FBN1 gene located on chromosome 15 and this gene is in control of the structure of a protein called fibrillin. Fibrillin is an important part of connective tissue.
People without the mutated gene that causes Marfan Syndrome have large amounts of fibrillin in their bones, heart and ligaments, but people with Marfan’s lack that fibrillin which causes their ligaments to abnormally stretch.

7. An Inherited Disorder
Marfan Syndrome is an autosomal dominant condition that is passed from parent to child. That means it only takes a defective gene from ONE parent to pass the disease on.
In about one-forth of the people with Marfan Syndrome the mutation occurs for the first time in the egg or sperm of the parent who doesn’t have the disorder and then it is passed to the child.

8. How is it diagnosed?
Although the gene for the Marfan Syndrome has been found, there is no simple blood test or skin biopsy to make the diagnosis. The diagnosis can be very complicated because the symptoms and signs of the disorder vary widely.
A Ghent criteria is used by doctors to help make the diagnoses. Tests need to be ran by a number of doctors, including a doctor who specializes in bones, eyes and heart, as well as a medical geneticist.

9. Tests & Info Used in Diagnosis
Information about any family members who may have the disorder or who had an early, unexplained heart-related death
A thorough physical examination, including an evaluation of the skeleton for the ratio of arm/leg size to trunk size and other changes that affect the bones and joints
An eye examination, including a "slit lamp" evaluation by an eye doctor, ophthalmologist, after fully dilating the pupil
Heart tests such as an echocardiogram, a sound-wave picture, by a cardiologist used to examine the heart valves and aorta.

10. Care and Treatment
There is no cure for the Marfan Syndrome. However, a range of treatment options can minimize and sometimes prevent complications.
Skeletal- Annual evaluations are important to detect any changes in the spine or breastbone. This is particularly important in times of rapid growth, such as adolescence.
Eyes- Early, regular eye examinations are key to catching and correcting any vision problems associated with the Marfan syndrome.

11. Care and Treatment cont’
Heart and blood vessels- Regular checkups and echocardiograms help the doctor evaluate the size of the aorta and the way the heart is working. The earlier a potential problem is identified and treated, the lower the risk of life-threatening complications.
Some heart valve problems can be managed with drugs such as beta-blockers, which help decrease stress on the aorta. In other cases, surgery to replace a valve or repair the aorta may be necessary.

12. National Marfan Foundation
This organization helps people who have Marfan Syndrome and related connective tissue disorders. It provides information and materials about the disorder and how to seek appropriate medical care. It supports research and promotes public awareness of Marfan Syndrome. The Foundation can also provide the names of doctors who diagnose and treat Marfan Syndrome.

13. Living with Marfan Syndrome
My brother Jared is now 21 years-old and has been living with Marfan syndrome for 10 years and he has to live with it for the rest of his life, but medicine has come a long way making the process easier for him and my family. And even though he is a good foot taller than me standing at 6’7”, he will always been my baby brother.

14. Bibliography http://www.marfan.org/nmf/.htm