Marfan Syndrome

1. Marfan Syndrome Alton Giant

2. What is Marfan Syndrome? • What's Marfan syndrome? The 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. In the Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, the Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin and lungs.

3. Inheritance • Three out of every four people with marfan syndrome inherit the disorder from a parent who also has the disorder. It can be passed down by the mother or father. The child only needs to inherit one copy of the marfan mutation to develop the syndrome, because the mutation is dominant. Even though normal fibrillin interferes with it during the second copy of the gene, the irregular marfan fibrillin interferes with it during microfibril production. This weakens ALL of the microfibrils, and the child develops the symptoms of marfan syndrome. Though they share the same mutation, the affected child and parent may have different characteristics of the syndrome. In the remaining quarter of people with marfan syndrome, neither parent has the disorder. These people develop the disorder when one of their fibrillin genes spontaneously mutates before birth. • When one parent has a mutated “Marfan” gene, the chance of his/her child inheriting the disorder is 50%.

4. Incident • Marfan syndrome affects both sexes and all ethnic groups, but it is relatively rare. About 1 in 5,000 people are born with the disorder. Every unborn child in the world has a 1 in 10,000, or 0.01% , chance of getting marfan syndrome through a spontaneous mutation.

5. Diagnosis • 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 needs to be made after examinations by a number of doctors, including a doctor who specializes in bones (orthopedists), eyes (ophthalmologist) and heart (cardiologist), as well as a medical geneticist (a doctor with special knowledge about inherited diseases). The exam includes: • * 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 heart doctor (cardiologist) used to examine the heart valves and aorta. • One doctor should coordinate the findings from all examinations. The medical geneticist most commonly handles this. The doctor may diagnose the Marfan syndrome if the patient has a family history of the condition and there are specific problems in at least two of the body systems known to be affected. For a patient with no family history of the disorder, at least three body systems must be affected before a diagnosis is made. In addition, two of the systems must show clear physical signs that are relatively specific for the Marfan syndrome.

6. Cause • Marfan syndrome is a genetic disorder caused by a mutation by a mutation in the fibrillin gene. The misshappen fibrillin produced from the mutated gene weakens the tendons, ligaments, and other connective tissues in the body.

7. Physical Symptoms • 1. tall, thin stature with disproportionately long arms • 2. unusally long lower half of body • 3. long, double-jointed fingers, including an elongated thumb4. curvature of the spine • 5. chest bone that curves either inward or outward6. backward curves either inward or outward7. flat feet8. backward curve of the legs at the knee9. nearsightedness (lenses of the eye are prone to dislocation)

8. Physical Symptoms (cont.)

9. Treatment • Treatment for cardiovascular problems is critical, and the aorta must be monitored for weakness. Drugs can help reduce the stress experienced by the aorta, but surgery, maybe needed eventually to replace the vessel.There is no cure for the Marfan syndrome. However, a range of treatment options can minimize and sometimes prevent complications. The appropriate specialists will develop an individualized treatment program; the approach the doctor uses depends on which systems are affected.

10. Personal life • Aggressive workout, couldn’t do certain sports, couldn’t drink carbonated drinks, can’t smoke. (One Blow you can die). The main issue was, that after 30 years old you aren’t allowed to have anymore children because the child could die during childbirth. A mention before there is no cure for marfan syndrome though there are treatments.

11. Help please? • http://www.marfanworld.org/ • http://www.marfan.org/nmf/index.jsp • http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Marfan%20Syndrome

12. Research • Scientists are approaching research on Marfan syndrome from a variety of perspectives. One approach is to better understand what happens once the genetic defect or mutation occurs. How does it change the way connective tissue develops and functions in the body? Why are people with Marfan syndrome affected differently? Scientists are searching for the answers to these questions both by studying the genes themselves and by studying large family groups affected by the disease. Newly developed mouse models that carry mutations in the fibrillin gene may help scientists better understand the disorder. Animal studies that are preliminary to gene therapy are also under way. • Other scientists are focusing on ways to treat some of the complications that arise in people with Marfan syndrome. Clinical studies are being conducted to evaluate the usefulness of certain medications in preventing or reducing problems with the aorta. Researchers are also working to develop new surgical procedures to help improve the cardiac health of people with Marfan syndrome.