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At Boston Children's Hospital, we understand how overwhelming a diagnosis of Marfan syndrome can be. Right now, you probably have lots of questions. How serious is this condition? What’s the best treatment? What do we do next? We’ve provided some answers to those questions on this site, and our experts can explain your child’s condition fully when you meet with us.
Marfan syndrome is a genetic disorder that causes connective tissues—which provide shape and support to many parts of the body—to weaken. As a multi-system disorder, Marfan syndrome can affect many parts of your child’s body, including her heart and blood vessels, lungs, bones, joints, eyes and nervous system.
A defective FBN1 gene associated with Marfan syndrome affects the formation of fibrillin protein in connective tissue, which impacts the integrity of many organs and structures in the body. Organs and systems that can be impacted include but aren’t limited to:
Marfan syndrome is a disorder involving the body's connective tissue. Connective tissue has many important functions, including:
Marfan syndrome can affect many parts of the body. Some signs (also called features or traits) are easy to see. But symptoms such as heart problems aren’t visible, so your child’s doctor needs to conduct special tests to detect them.
Many traits of Marfan syndrome may be quite mild early in life and become more noticeable as your child grows. It’s not unusual for a child to be diagnosed in her teenage years.
The first thing you’ll probably notice about a child with Marfan syndrome is how unusually tall and thin she is. An extremely long arm span is very common. Other physical characteristics can include:
Not everyone who has these traits has Marfan syndrome, and some can be signs of other connective tissue disorders. If you’re concerned that your child may have Marfan syndrome, it’s important to see a doctor who’s experienced in diagnosing genetic disorders.
Some features of this condition may worsen as your child gets older. Children with Marfan syndrome who develop scoliosis in childhood are at risk for their scoliosis to worsen during periods of rapid growth, such as puberty.
The main reason for concern is that children with Marfan syndrome are at risk for serious problems involving the cardiovascular system. In children with Marfan syndrome, the aorta—the main artery that supplies oxygen-rich blood to the body—can become enlarged (dilated), stretch and grow weak.
This can eventually lead to a condition called aortic dissection, in which the aorta tears and leaks blood. Or it can lead to an aneurysm (a bulge in the weakened artery). Both are very serious developments, but they can be treated or avoided with appropriate medication and possibly with surgery.
Marfan syndrome can cause problems with any of the heart’s four valves; often it affects the heart's mitral valve, which controls blood flow between the upper and lower chambers on the left side of the heart. The mitral valve can be prolapsed—a condition in which the flaps of the mitral valve are floppy, don't close tightly and allow blood to flow backwards during a heartbeat. Depending on the severity of the condition, surgery may be needed to repair the valve.
If your child has a mitral valve prolapse (MVP), her doctor may hear a heart murmur (an extra or unusual sound heard during the heartbeat). But it’s important to note that having MVP or a heart murmur does not definitively mean that your child has Marfan syndrome.
Marfan syndrome is caused by a defect (mutation) in the gene that determines the structure of fibrillin-1—a protein that’s an important part of your child’s connective tissue. A child with Marfan syndrome is born with the disorder, even though it may not be diagnosed until later in life.
The defective gene that causes Marfan syndrome can be inherited. The child of a parent who has Marfan syndrome has a 50 percent chance of inheriting the disease. But sometimes Marfan syndrome isn't inherited—in about one out of four children who have Marfan syndrome, the mutation has happened spontaneously, for no apparent reason.
Although everyone with Marfan syndrome has a defect in the same gene, different mutations are found in different families and individuals. So, the defective gene can express itself differently in different people (this is called “variable expression”)—creating variability in traits and severity, even within families.
Marfan syndrome is a serious condition that can affect many parts of the body—including the heart and blood vessels, lungs, bones, joints, eyes and skin. Besides heart problems, complications from Marfan syndrome can include:
If your child has been diagnosed with Marfan syndrome, you may feel overwhelmed with information, and it can be easy to lose track of the questions that occur to you. Lots of parents find it helpful to jot down questions in advance—that way, when you talk to your child’s doctors, you can be sure all your concerns get addressed.
If your child is old enough, you may want to suggest that she write down what she’d like to ask her health care provider, too.
Some of the questions you may want to ask include:
Besides the typical issues any teenager faces—from being accepted by your peers to dealing with your body’s changes—if you have Marfan syndrome, you’re also dealing with medical appointments and tests, feeling different and the need to take on some responsibility for your own health.
You may feel self-conscious about your appearance or about restrictions on your sports activities. The good news is that with excellent treatment and care, you’ll grow up to lead a normal, productive life. And your team at Boston Children’s will provide you with care and support every step of the way.
You can help yourself a lot by:
Even when you understand the benefits of treatments, medications and healthy choices, you can still experience your teens as a complicated time. If you feel depressed, overwhelmed or anxious, reach out to your parent, doctor, nurse, counselor or clergy—they’re all on your team, and they all want to help.
If you were treated for Marfan syndrome as a child, you’re probably being followed by a cardiologist, since complications from early cardiovascular problems can arise in adulthood. You may need lifelong heart monitoring and medication, since you’ll always be at some risk for infections and other problems. Going forward, your cardiologist can also advise you on matters such as physical activities, pregnancy precautions and lifestyle choices.
Here at Boston Children’s, we are experienced at helping adults who have Marfan syndrome, since many adults who were our patients as children continue to be monitored by clinicians who’ve followed them since childhood. We understand the evolving needs of Marfan patients as they mature and age.
If you’re an adult with Marfan syndrome—even if you weren’t treated at Boston Children’s when you were a child—and you’d like to know more about how we can help, contact our Cardiovascular Genetics Program at 617-355-8794, or email us at firstname.lastname@example.org.
Q: Who gets Marfan syndrome? Is it hereditary?
A: Most people who have Marfan syndrome inherit the condition from a parent. If you have the condition, you have a 50 percent chance of passing the altered gene on to your child. About 75 percent of children with Marfan syndrome have inherited it. But sometimes Marfan syndrome isn't inherited—the mutation happens spontaneously for no apparent reason in about one out of four children who have Marfan syndrome.
Q: How common is Marfan syndrome?
A: Marfan syndrome affects about one in 5,000 Americans. Men, women and children of all ages, races and ethnicities can have the condition. Some people have mild symptoms, while others are more severely affected.
Q: Is there a cure for Marfan syndrome? How can patients manage this condition?
A: There’s no cure for Marfan syndrome, but with an early diagnosis, proper treatment and careful management, children can grow up to be normal, productive adults.
If your child has Marfan syndrome, it’s important for her to have regular, ongoing visits with her caregivers. These include:
Q: Can Marfan syndrome be prevented?
A: Currently, there’s no way to prevent Marfan syndrome. But early diagnosis can help prevent or delay serious complications, such as eye problems, joint troubles and heart issues.
Q: Who’s at risk for getting Marfan syndrome?
A: Marfan syndrome is caused by a mutated gene that’s usually inherited from a parent who has the condition. Any child of a parent who has Marfan syndrome has a 50 percent chance of inheriting (or not inheriting) the mutation.
Q: Will my child be OK?
A: Marfan syndrome is a lifelong disorder, and there isn’t a cure. But the good news is that the long-term outlook for people with Marfan syndrome has improved in recent years.
Early diagnosis and advances in medical technology have improved both the longevity and quality of life for people with Marfan syndrome. And early identification of risk factors (such as aortic enlargement) allows doctors to intervene to prevent or delay complications.
The advances that researchers are making in understanding the causes of Marfan syndrome and identifying potential treatments provide hope for the future. With an early diagnosis and appropriate treatment, the life expectancy for someone with Marfan syndrome is similar to that of the average person.
For in-depth visual information on some of the conditions, diagnostic tools and procedures described above, visit Boston Children’s cardiovascular Multimedia Library.
Treatment for Marfan syndrome often includes beta blockers to lower blood pressure and reduce stress on the aorta. But Ronald Lacro, MD, director of the Cardiovascular Genetics Program at Children’s Hospital Boston, and researchers at Boston Children’s may have found a better solution. They’re testing the blood pressure drug losartan for use with Marfan patients. Learn more in the Research and innovations section.
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