Marfan syndrome is a rare genetic disorder that affects the body’s connective tissue. It can cause serious, even life-threatening, problems in the aorta and heart valves.
UPMC experts provide the latest treatments for the heart-related problems of Marfan syndrome.
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Marfan syndrome is a very rare genetic disorder that affects connective tissue throughout the body, including the:
Some people develop enlarged aortas, which can be life-threatening.
People with Marfan syndrome are usually tall and thin and have long limbs and fingers. Marfan syndrome is present at birth and tends to worsen with age.
Marfan syndrome is a rare disorder that affects 1 in 5,000 people in the U.S.
Marfan syndrome is caused by a genetic mutation that limits the body’s ability to make proteins that build connective tissue.
If you have a parent with Marfan syndrome, you have a 50 percent chance of developing it yourself. Although about 25 percent of people develop Marfan syndrome for unknown reasons, it is most commonly passed from parent to child.
Because Marfan syndrome affects many structures of the body, complications can be wide-ranging and may include:
Regular medical monitoring is necessary, especially if Marfan syndrome affects the heart and aorta.
People with Marfan syndrome tend to have a variety of distinctive physical features, mostly related to the skeleton.
If you have a parent who has been diagnosed with Marfan syndrome, you should see your doctor for a screening test.
If you have been diagnosed with Marfan syndrome, you should see your doctor if you notice any common symptoms of heart problems, such as:
If your symptoms are sudden or severe, dial 911 or visit your nearest hospital emergency department.
Doctors diagnose many people with Marfan syndrome at a young age. Sometimes it can be hard to diagnose since it impacts such a wide range of organs.
If a close relative has the condition, diagnosis may be easier. Genetic testing will help confirm the diagnosis.
During your physical exam, your doctor will:
Our experts use the latest diagnostic tests to learn about your heart valve condition, including:
Since Marfan syndrome is an inherited condition, there's no cure. However, your doctors can help you manage it. Your doctor will discuss your prognosis with you.
Medical advances and increased awareness of Marfan syndrome have improved the life expectancy for people with Marfan syndrome. With proper medical treatment, most people with Marfan syndrome have an average life expectancy.
You will need ongoing medical care after you are diagnosed with Marfan syndrome. However, most people live active and fulfilling lives.
Problems with the aorta — such as aortic aneurysm or dissection — are the most common cause of death in people with Marfan syndrome.
Marfan syndrome affects many areas of your body, so you will need to see multiple medical specialists to manage your condition. To reduce the risk of heart complications, your doctor may recommend:
You'll need regular appointments with your doctor. He or she will check your condition and the health of your impacted organs.
Marfan syndrome treatment often includes blood pressure medicine to reduce the strain on your aorta.
Many people with Marfan syndrome eventually need preventive surgery to repair the aorta if it affects the heart. Surgical procedures for aortic disease caused by Marfan syndrome include:
Early diagnosis and treatment for Marfan syndrome can effectively manage symptoms and reduce the risk of heart-related complications.
Our vascular specialists provide expert treatment of aortic disease, including complex aortic aneurysms and aortic dissections, using the latest techniques. Our goal is to provide dedicated care to patients with Marfan syndrome and other causes of aortic disorders.
Last reviewed by a UPMC medical professional on 2024-10-01.
