How does marfan syndrome affect a person

People who might have Marfan syndrome should be evaluated to help reduce the risk of potential heart problems. Not everyone with Marfan syndrome has all of the complications. People with Marfan syndrome must be closely followed by their doctor to watch for the following complications:.

Treatment depends on which parts of the body are affected. An aortic aneurysm may be treated with medicine or medicine plus surgery. Medicine is used to lower blood pressure to help prevent an aneurysm from rupturing and causing a dissection of the aorta. Severe scoliosis and breastbone problems may require surgery. Eye conditions may also require surgery. Lifestyle adaptations, such as the avoidance of strenuous exercise and contact sports, to reduce the risk of injury to the aorta. For more information about Marfan syndrome, please visit The Marfan Foundation.

Health Home Conditions and Diseases. What is Marfan syndrome? What medical problems are associated with Marfan syndrome? What are the risk factors of Marfan syndrome? How is Marfan syndrome diagnosed? Tests include: Echocardiogram — a sound wave picture of the heart and aorta — by a cardiologist Slit-lamp examination by an ophthalmologist to check for dislocation of the ocular lens Complete family history to determine other heart, skeletal or eye conditions among relatives Skeletal examination by an orthopaedist Genetic test for a mutation in FBN1 , the fibrillin-1 gene.

How is Marfan syndrome treated? However, in general, treatment includes the following: Annual echocardiogram to monitor the size and function of the heart and aorta Initial eye examination with a slit-lamp to detect lens dislocation, with periodic follow-up Careful monitoring of the skeletal system, especially during childhood and adolescence Beta-blocker medications to lower blood pressure and reduce stress on the aorta Antibiotics and other medications may be necessary prior to any dental or genitourinary procedures to reduce the risk of infection in people who experience mitral valve prolapse or who have artificial heart valves.

Lifestyle adaptations, such as the avoidance of strenuous exercise and contact sports, to reduce the risk of injury to the aorta Additional Resources for Marfan Syndrome For more information about Marfan syndrome, please visit The Marfan Foundation. Depending on which body parts are affected and to what degree, regular monitoring and treatment options may include:. The expected lifespan of a person with Marfan syndrome used to be around the mids age group, but now extends into the 70s — which is comparable to the general population.

This improved lifespan is mainly due to:. If you have Marfan syndrome, it is important to be well informed about the condition and how it can be managed. General wellbeing and quality of life for individuals with Marfan syndrome can be improved by making lifestyle choices that reduce the stress on their body. A healthcare professional can advise you on suitable lifestyle suggestions. Depending on which body parts are affected and to what degree, such changes may include:.

If you or a family member have been diagnosed with Marfan syndrome, or if it runs in your family, it can be helpful to speak to a genetic counsellor. Genetic counsellors are health professionals qualified in both counselling and genetics.

Genetic counsellors are trained provide information and support that is sensitive to your family circumstances, culture and beliefs. If Marfan syndrome runs in your family, a genetic counsellor can explain what genetic testing options are available to you and other family members.

You may choose to visit a genetic counsellor if you are planning a family, to find out your risk of passing that condition on to your child, or to arrange for prenatal tests.

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These are very serious problems because a significantly enlarged aorta is at risk for tearing or rupture aortic dissection. For most people with Marfan syndrome, the problem starts in the segment of the aorta closest to the heart. A tear or rupture between layers of the aortic wall is called an aortic dissection.

When this happens, people experience severe pain in the center of their chest, stomach, or back. Symptoms can include irregular or rapid heartbeats and shortness of breath. Some people also have leaking of the mitral valve. A small amount of leaking is usually not a problem, but a person may need surgery if the mitral valve leaks a lot. Aortic regurgitation is when the aortic valve does not fully close and blood leaks back into the heart. This often happens when the aorta is enlarged and the valves cannot fully come together.

The only symptoms a person may have are forceful heartbeats and shortness of breath during light activity. Heart and Blood Vessels in Marfan Syndrome. Cardiac Surgery in Marfan Syndrome. Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin Marfan syndrome is caused by a defect or mutation in the gene that tells the body how to make fibrillin Marfan syndrome is a serious, potentially life-threatening condition, and an early, accurate diagnosis is essential for people with Marfan syndrome.

Both clinical and genetic testing may be used to help diagnosis Marfan syndrome. People with Marfan syndrome are born with it, but features of the condition 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.