How many people get marfan syndrome

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.

Some features of Marfan syndrome, like those affecting the heart and blood vessels, bones or joints, can get worse over time.

This makes it very important for people with Marfan syndrome and related conditions to receive accurate, early diagnosis and treatment. Without it, they can be at risk for potentially life-threatening complications.

The earlier some treatments are started, the better the outcomes are likely to be. Knowing the signs of Marfan syndrome can save lives. This is something we are working hard to change. Special Medication Warning re: Fluoroquinolones. Know the Signs of an Aortic Aneurysm and Dissection.

View factsheets, ask a question, and even connect with other caregivers to get all the information and support you need to care for someone living with Marfan syndrome. Depending on the onset and severity of signs and symptoms, Marfan syndrome can be fatal early in life; however, with proper treatment, many affected individuals have normal lifespans.

Mutations in the FBN1 gene cause Marfan syndrome. The FBN1 gene provides instructions for making a protein called fibrillin Fibrillin-1 attaches binds to other fibrillin-1 proteins and other molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue. Additionally, microfibrils bind to molecules called growth factors and release them at various times to control the growth and repair of tissues and organs throughout the body.

A mutation in the FBN1 gene can reduce the amount of functional fibrillin-1 that is available to form microfibrils, which leads to decreased microfibril formation. As a result, microfibrils cannot bind to growth factors, so excess growth factors are available and elasticity in many tissues is decreased, leading to overgrowth and instability of tissues in Marfan syndrome.

This condition is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder. At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene. These cases occur in people with no history of the disorder in their family. Genetics Home Reference has merged with MedlinePlus. Learn more. The information on this site should not be used as a substitute for professional medical care or advice.

Contact a health care provider if you have questions about your health. Marfan syndrome is a genetic disorder that causes people to have unusually long arms, legs and fingers. Your doctor may want to measure your arm span if he or she thinks you might have the disorder. The signs and symptoms of Marfan syndrome can vary greatly, even among members of the same family, because the disorder can affect so many different areas of the body.

Some people experience only mild effects, but others develop life-threatening complications. If you think that you or your child may have Marfan syndrome, talk to your doctor or pediatrician. If your doctor suspects a problem, you'll likely be referred to a specialist for further evaluation. Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength.

Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder. Each child of an affected parent has a chance of inheriting the defective gene. In these cases, a new mutation develops spontaneously. Marfan syndrome affects men and women equally and occurs among all races and ethnic groups.

Because it's a genetic condition, the greatest risk factor for Marfan syndrome is having a parent with the disorder. The pressure of blood leaving your heart can cause the wall of your aorta to bulge out, like a weak spot in a tire.

In people who have Marfan syndrome, this is most likely to happen at the aortic root — where the artery leaves your heart. An aortic aneurysm occurs when a weak spot in the wall of your aorta begins to bulge left.

This can occur anywhere in your aorta. Having an aneurysm increases the risk of an aortic dissection — a tear in the lining of the aorta, shown in the image on the right. Some people who have Marfan syndrome may experience the dislocation of the lens in their eye.

Retinal detachment describes an emergency situation in which a critical layer of tissue the retina at the back of the eye pulls away from the layer of blood vessels that provides it with oxygen and nutrients. Retinal detachment is often accompanied by flashes and floaters in your vision. Viewed from the side, the normal spine takes the form of an elongated S, the upper back bowing outward and the lower back curving slightly inward.

Viewed from behind though, the spine should appear as a straight line from the base of the neck to the tailbone. Scoliosis is a sideways curvature of the spine. Marfan syndrome is hereditary, which means it can be passed to a child from a parent who's affected. The syndrome is autosomal dominant, which means a child can inherit it even if only 1 parent has the syndrome. The gene defect leads to abnormal production of a protein called fibrillin, resulting in parts of the body being able to stretch abnormally when placed under any kind of stress.

This means a person with Marfan syndrome may be tall because their arms and legs grow longer than normal. In these cases, the fibrillin gene changes mutates for the first time in the parent's egg or sperm. Diagnosing Marfan syndrome can be difficult as the symptoms can vary significantly from person to person. As the symptoms of Marfan syndrome do not always develop during childhood, it may not be identified until the teenage years.

In most cases, a diagnosis of Marfan syndrome is based on a thorough physical examination and a detailed assessment of a person's medical and family history.