Marfan syndrome symptoms & causes in children

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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.

What is Marfan syndrome?

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.

  • Marfan is congenital because it’s present at birth (although it may not be diagnosed right away). Its traits may be quite mild early in life and become more noticeable as a child grows.
  • It’s genetic because the syndrome is caused by a defect in a gene known as FBN1, which controls the structure of fibrillin-1, a protein that’s an important part of a child’s connective tissue.
  • And it’s inherited because in about 75 percent of cases, the defective gene is passed down from parent to child. (In the other 25 percent, the gene mutates spontaneously for no apparent reason.)

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:

  • heart and major blood vessels
  • lungs
  • skeletal system
  • spinal cord
  • eyes
  • skin

What does connective tissue do, specifically?

Marfan syndrome is a disorder involving the body's connective tissue. Connective tissue has many important functions, including:

  • helping with the growth and development of the body's cells
  • supporting tissues in the body
  • acting as an adhesive to hold certain tissues together
  • protecting joints
  • facilitating the passage of light through the eye

What are the signs and symptoms of Marfan syndrome?

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:

  • long arms, legs, fingers and toes
  • long, narrow face
  • flexible joints
  • short torso and very long legs
  • a spine that curves to one side (scoliosis)
  • a chest that sinks in (concave) or sticks out (convex)
  • eye problems, like nearsightedness or a dislocated lens
  • overly crowded teeth
  • flat feet
  • unexplained stretch marks on the skin

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.

Why is Marfan syndrome a concern?

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.

How else does Marfan syndrome affect the heart?

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.

What other systems of the body can be affected by Marfan syndrome?

  • Many children with Marfan syndrome have decreased flexibility in their lungs’ air sacs, increasing their chances of lung complications such as:
    • collapsed lung
    • sleep apnea
    • emphysema
  • Skeletal problems can include:
    • scoliosis, which may become more severe as a child gets older if it’s not treated properly
    • a sunken breastbone, which can lead to heart and lung problems
  • A condition that can diminish the quality of life for a child who has Marfan syndrome is dural ectasia, the weakening of the connective tissue of the dural sac (the membrane that encases the spinal cord). A child may go for a long time with this non-life-threatening condition, but it will eventually cause:
    • pain or a burning sensation in the stomach, lower back or legs
    • headaches and numbness or weakness in the legs
      • These symptoms usually decrease or disappear when patients lie flat on their back. 
  • Eye problems can include:
    • early glaucoma (high pressure within the eye)
    • dislocated lens of the eye
    • early cataracts (a condition that causes the eye's lens to lose its clarity)
    • detached retina
  • Dental issues often occur because many children with Marfan syndrome have narrow jaws, arched palates and teeth placed close together. These children often need orthodontic care and/or other treatments.

Causes of 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.

Complications of Marfan Syndrome

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:

  • decreased lung flexibility, which can lead to collapsed lung, sleep apnea and/or emphysema
  • joint and skeletal problems, including scoliosis and a sunken breastbone, which can lead to heart and lung problems
  • eye problems, including early glaucoma (high pressure within the eye), dislocated lens of the eye or early cataracts (when the eye's lens loses its clarity)
  • dural ectasia, the weakening of the connective tissue of the membrane that encases the spinal cord—causing back, abdominal and leg pain, as well as headaches
  • dental issues because of the shape of the mouth and crowding of the teeth, often requiring orthodontic care and/or other treatments

Questions to ask your doctor

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:

  • How did you make this diagnosis? Is there any other condition my child might have instead?
  • Can my child’s excessive growth be stopped?
  • How often should my child be checked by a cardiologist and/or clinical geneticist?
  • Is there anything my child can do to reduce the risk of heart problems?
  • Is it okay for my child to play sports and participate in strenuous physical activity?
  • Can my child wear contact lenses instead of thick glasses?
  • What are the chances my child will pass Marfan syndrome on to her children?
  • What services are available to help my child and my family to cope with the psychological and emotional toll of living with this condition?
  • How should I explain my child’s condition to family, teachers and classmates?
  • Are there any other resources you can point me to for more information?

For teens

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:

  • doing regular light exercise (bowling, golf, skating and walking are great options)
  • eating a heart-healthy diet
  • keeping on top of your schoolwork
  • enjoying hobbies and activities (the school paper, after-school clubs)
  • doing things independently—making some of your own plans and medical appointments
  • not smoking

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.

For adults

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 cardiacgenetics@cardio.chboston.org.

Frequently Asked Questions about Marfan Syndrome

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:

  • visits with her cardiologist to check heart function and look for changes in her aorta and valves that may need treatment
  • annual checkups with an orthopedist to look for changes in her spine or breastbone that may need treatment
  • regular eye exams with an ophthalmologist to find and treat eye problems early

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.


Marfan syndrome glossary

aneurysm  a bulged out, bubbled or ballooned area of a weakened artery wall. In children with Marfan syndrome, the aorta—the main blood vessel that supplies oxygen-rich blood to the body—can become enlarged, stretch and grow weak, creating the risk of an aortic aneurysm, which can then rupture or be the site of blood clots. 

aorta  one of the heart’s two great arteries, arising from the left ventricle and carries oxygen-rich blood out to the body 

aortic dilation  enlargement (dilation) of the wall of the aorta—the main artery that supplies oxygen-rich blood to the body. Dilation stretches and weakens the aorta, increasing the risk of an aneurysm, tear or leak. 

aortic dissection  a condition in which the aorta tears and leaks blood. 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, creating the risk of aortic dissection. 

cardiac/cardio  pertaining to the heart 

cardiac surgery  surgical procedure performed on the heart or one of the blood vessels connected to the heart 

cardiac surgeon  doctor who performs surgery on the heart. A pediatric cardiac surgeon performs surgery on the hearts of infants and children. 

cardiologist  doctor who diagnoses and treats heart problems non-surgically. A pediatric cardiologist treats infants, children and some adults with heart problems. 

Cardiovascular Genetics Program
clinical program at Boston Children’s that cares for children, adults and families affected by Marfan syndrome and other genetic disorders, and conducts research to develop better treatments for these conditions
 
cardiovascular system  the heart and blood vessels 


The Center for Families at Children’s  dedicated to helping families find the information, services and resources they need to understand their child’s medical condition and take part in their care


clinical geneticist  a hereditary disease expert, usually an MD or PhD 

congenital  present at birth. Marfan is congenital because it’s present at birth (although it may not be diagnosed right away). Its traits may be quite mild early in life and become more noticeable as a child grows. 

connective tissues  the material between the cells of the body that gives tissues form and strength. Marfan syndrome causes connective tissues—which provide shape and support to many parts of the body—to be weaker than they should be. 

diagnosis  medical determination of illness or disease based on history, physical examinations and advanced-technology diagnostic testing tools 

dural ectasia  the weakening of the connective tissue of the dural sac, the membrane that encases the spinal cord; often occurs in Marfan syndrome 

echocardiogram (cardiac ultrasound)  a diagnostic tool that evaluates the structure and function of the heart using sound waves that produce a moving picture of your child’s heart and heart valves 


electrocardiogram (EKG, ECG) a diagnostic tool that evaluates the electrical activity of your child’s heart


genetic  caused by a defective gene or genes. Marfan syndrome is caused by a defect in the gene that controls the structure of fibrillin-1, a protein that’s an important part of a child’s connective tissue. 

hereditary (inherited)
pertaining to factors that can be transmitted genetically from one generation to another. In about 75 percent of Marfan cases, the defective gene that causes the condition is passed down from parent to child. 

Marfan syndrome  a genetic disorder that causes connective tissues—which provide shape and support to many parts of the body—to be weaker than they should be. Marfan often weakens the aorta (the blood vessel that carries blood away from the heart to the body), creating the risk of a tear, leak or aortic aneurysm.

mitral valve prolapse (MVP)  a condition in which the flaps of the mitral valve, which controls blood flow between the upper and lower chambers on the left side of the heart, are floppy and don't close tightly, allowing blood to flow backwards during a heartbeat; one of the serious effects that Marfan syndrome can have on the heart; can require surgery to repair 

multi-system disorder
a disorder that affects multiple bodily systems. As a multi-system disorder, Marfan syndrome can affect the cardiovascular, skeletal, pulmonary (lungs), ocular (eyes) and other organ systems. 

pediatric cardiologist
 
a doctor who specializes in the diagnosis and medical management of congenital heart defects, as well as heart problems that may develop later in childhood 
scoliosis  a condition in which the spine has an abnormal side-to-side curvature. The spine is also rotated or twisted, pulling the ribs along with it to form a multidimensional curve. Marfan patients can develop skeletal problems, including scoliosis. 

symptoms  the presenting reasons why a child needs medical attention. A symptom’s characteristics—such as onset, quality, triggers and severity—help diagnosticians to determine a disease, or to decide which testing is needed to determine the disease. 

x-ray  a diagnostic tool to evaluate the size, condition and spatial relationships of your child’s bones and organs; sometimes used in diagnostics for Marfan syndrome and/or its associated conditions

For in-depth visual information on some of the conditions, diagnostic tools and procedures described above, visit Boston Children’s cardiovascular Multimedia Library.

A better way to strengthen the Marfan patient’s aorta?

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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