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Marfan Syndrome

  • My message to the public is if you notice common findings of Marfan in yourself or your child, these need to be evaluated right away--especially with an eye or cardiology exam.

    --Ronald Lacro, MD, director, Cardiovascular Genetics Program, Boston Children's Hospital

    If you’ve learned that your child has been diagnosed with Marfan syndrome, you may be feeling overwhelmed. At Boston Children's Hospital , we know that living with a genetic disorder like Marfan syndrome can be difficult for children—and their parents.

    An important first step in understanding what lies ahead is familiarizing yourself with the basics about Marfan syndrome.

    marfan syndrome

    A genetic disorder, usually hereditary

    Marfan syndrome is a genetic disorder that causes connective tissues—which provide substance, 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 an aortic tear, leak or aneurysm.

    • 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.
    • The condition is congenital (present at birth), but may not be diagnosed right away; traits may be quite mild early in life and become more noticeable as your child grows.
    • Marfan affects one out of 5,000 Americans, including infants, children and adults; it affects males and females of all races and ethnicities equally.
    • About 75 percent of Marfan syndrome patients have inherited the condition from a parent.
    • Children who have Marfan usually have a tall, thin stature with long arms, long double-jointed fingers, a short torso and very long legs.
      They often have an abnormally shaped chest, which increases the risk of developing lung complications.
    • The condition doesn’t affect your child’s intelligence.
    • There’s no cure for Marfan, but treatments can help delay or prevent complications.
    • Treatments can include medication, surgery/and or other therapies. With early diagnosis, proper treatment and careful management, children can live normal, healthy lives into adulthood.

    How Boston Children's Hospital approaches Marfan syndrome

    Boston Children’s Cardiovascular Genetics Program cares for patients and families affected by Marfan syndrome and other genetic disorders—and conducts research to develop better treatments for these conditions. Created in 1991 by Ronald Lacro, MD, a pediatric cardiologist and clinical geneticist, the program was one of the first of its kind. Today, its core staff includes pediatric and adult cardiologists, clinical geneticists, a genetic counselor, a nurse practitioner and a nurse.

    As patients reach adolescence, their care is gradually transitioned when it is physically, emotionally and socially appropriate to Michael Singh, MD,an adult cardiologist within the Cardiovascular Genetics Program, with clinics available at both Boston Children's Hospital and Brigham and Women's Hospital Cardiovascular Center.

    Because Marfan is a multi-system disorder, our program works closely with other subspecialists—including general surgeons, ophthalmologists, orthopedic surgeons, behavioral pediatricians, educational specialists, mental health providers and others.

    Here at Boston Children’s, we provide Marfan syndrome patients—both children and adults—and their families with the latest diagnostics and innovative therapies in cardiology, genetics and related subspecialties. Our multidisciplinary experts work closely as a team to develop a customized treatment plan that meets all of your child's physical, emotional and social needs—and one that involves you and your family every step of the way.

    Boston Children's scientific research program

    Our scientific research program is one of the largest and most active of any pediatric hospital in the world. Our cardiovascular and cardiac surgery researchers are gaining and sharing crucial insights into the causes and development of heart disease. We’re paving the way for the most promising new treatments and interventions, with discoveries that could one day lead to cures. Learn more about our ongoing cardiology research efforts.

    You don't have to be a child to be a Boston Children's Marfan patient

    Boston Children’s can offer help to adults with Marfan syndrome, too. In fact, many adults who were patients as children continue to be monitored by the Boston Children’s clinicians who’ve followed them since childhood. If you’re an adult with Marfan syndrome—even if you weren’t treated at Boston Children’s as a child—and you’d like to know more, contact our Cardiovascular Genetics Program at 617-355-8794.

    Marfan syndrome: Reviewed by Ronald Lacro, MD
    © Boston Children’s Hospital, 2011

  • 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

    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.

    Signs and symptoms

    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.

    Causes

    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

    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 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.

    FAQ

    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 weakenedartery 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.

  • At Boston Children's Hospital, we know that the first step in treating your child is to form an accurate diagnosis. If there’s a history of Marfan syndrome in your family, your doctor may perform tests soon after your child is born. But in many cases, it’s easier to diagnose Marfan syndrome as your child gets older, since many of its features—like tall, thin stature and unusually long arm span—become more apparent with age.

    Can Marfan syndrome be diagnosed in childhood?

    There’s no single test to diagnose Marfan syndrome, and the condition can be especially hard to diagnose in children. It’s rare for a young child to be definitively diagnosed with the condition, since:

    • most symptoms don’t usually appear until the child is a teenager or young adult
    • Marfan’s traits and severity can vary widely even within families
    • Marfan syndrome shares traits with other connective tissue disorders

    Usually, a child with suspected Marfan syndrome will be carefully monitored, so that any developing symptoms can be detected and treated as soon as possible.

    Can prenatal testing detect Marfan syndrome?

    • If you have Marfan syndrome and you want to know whether your unborn baby also has the condition, you can have prenatal testing at about 10 to 12 weeks using chorionic villus sampling (CVS), which involves taking/examining a small sample of placenta from the womb.
    • Amniocentesis at about 16 to 18 weeks can also test for Marfan syndrome. This involves taking/examining a small sample of amniotic fluid (the fluid that surrounds the fetus in the womb).

    These tests may show whether your child has the defective gene, but they can’t indicate how severe her Marfan syndrome will be. And the severity of the syndrome in the parent who has the condition doesn’t indicate how severe the syndrome will be in the child, either.

    What are some of the tests my child will have?

    Diagnostic tests can include:

    • 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.
      • to check the aorta
      • to see how well your child’s heart chambers and valves are working
    • electrocardiogram (EKG, ECG): a diagnostic tool that evaluates the electrical activity of your child’s heart.
      • to check your child’s heart rate and heart rhythm
    • complete eye exam (including slit-lamp exam)
      • to check for lens dislocation, cataracts or other eye problems
    • x-ray: a diagnostic tool that evaluates the size, condition and spatial relationships of your child’s bones and organs
      • to check for skeletal abnormalities, such as scoliosis
    • DNA studies
      • to locate and confirm the mutated gene

    What specialists do we need to see?

    Your child’s pediatrician, your family doctor or an orthopedist (bone specialist), may notice certain traits—like the long bones in your child’s body growing more than is normal—that suggest she may have Marfan syndrome.

    If that happens, the doctor will likely refer your child to a clinical geneticist (hereditary disease expert, usually an MD or PhD) or cardiologist (heart specialist)—two specialists that usually have the most experience working with children who have Marfan syndrome.

    • The clinical geneticist will ask for medical information about your child and your family. This doctor will examine your child and other members of your family. The geneticist also will coordinate your visits with other doctors—including a cardiologist, an ophthalmologist (eye specialist) and an orthopedist.
    • The cardiologist will examine the size and function of your child’s aorta and heart valves.
    • The ophthalmologist will evaluate her eyes—including an exam to look for lens dislocation.
    • The orthopedist will examine your child’s bones and joints.

    After reviewing their findings, your child’s team of specialists can determine whether she has Marfan syndrome. Here at Boston Children’s, we view your child’s diagnosis as a starting point: We’re now able to treat her with all the means at our disposal—so that we can effectively manage her condition.

    Partnering with the National Marfan Foundation

    Boston Children’s is actively involved with the National Marfan Foundation, which provides research, education and support services to families and children with Marfan syndrome.

  • It's natural to feel distressed when you learn that your child has Marfan syndrome, since this is a rare condition that can affect your child in a number of ways. But it may comfort you to know that your child and your family are in the right place—the dedicated specialists in the Cardiovascular Genetics Program at Boston Children's Hospital are incredibly well qualified to care for your child.

    At Boston Children's, we have decades of experience treating kids with Marfan syndrome, and we specialize in innovative, family-centered care. From your first visit, you'll work with a team of clinicians that's committed to addressing all of your family's physical and emotional needs.

    How do you treat Marfan syndrome?

    Marfan syndrome doesn't have a cure. But treatments can help delay or prevent complications, especially when they're started early—which is why early diagnosis is so important.

    Marfan syndrome can affect many parts of your child's body, including her heart, bones and joints and eyes. The type of treatment your child receives depends on her signs, symptoms and related conditions.

    Heart treatments. The most common and serious heart problem linked to Marfan syndrome is a condition called aortic dilation, in which the aorta becomes enlarged, stretched and weakened over time, causing an aortic aneurysm (a bulged out area of the weakened artery wall that can rupture) or aortic dissection (tear or leak). Patients from 6 months to 25 years of age are at the greatest risk. Aortic aneurysms and aortic dissections are very serious and can be life-threatening.

    • Depending on the severity of your child's condition, she may need surgery to replace the enlarged segment of her aorta. She may also (or instead) need surgery to repair her mitral valve if it isn't functioning normally.
    • Medication, including beta blockers, may be an option to lower her blood pressure and reduce stress on her aorta when surgery isn't necessary.

    Bone and joint treatments. If your child has scoliosis—a common problem in children with Marfan syndrome—your doctor may suggest a brace or other device to prevent the condition from getting worse. Severe cases of scoliosis may require surgery.

    Some kids who have Marfan syndrome need surgery to repair a chest that sinks in (concave) or, less often, sticks out (convex). Surgery to repair a concave chest is done to prevent the chest from pressing on the lungs and heart and is generally very successful.

    Eye treatments. Marfan syndrome can lead to many eye problems, such as a dislocated lens, nearsightedness, early glaucoma (high pressure in the fluid of the eyes), early cataracts (clouding of an eye's lens) or detached retina.

    Glasses or contact lenses can help with some of these problems, but sometimes surgery is needed—for example, if your child has a dislocated lens or cataracts. If she develops glaucoma, treatments could include eye drops, drugs, laser therapy and surgery.

    Will my child's activities be restricted after treatment?

    While most children who are successfully treated in a timely fashion for Marfan syndrome will grow up to enjoy a normal life expectancy, there will be some restrictions on their activities.

    Your child shouldn't play rigorous sports such as basketball, soccer or football, and shouldn't lift heavy objects. She can usually participate in sports and activities that are less demanding on the heart: Bowling, golf, skating and walking are great options. Your child's doctor can advise you if she should also take other precautions.

    How should we manage her condition going forward?

    If your child has Marfan syndrome, she'll need regular check-ups with her cardiologist throughout her life to monitor her aorta and heart valves. Your doctor's recommendations for managing Marfan syndrome may include:

    • an annual echocardiogram (cardiac ultrasound) (to monitor the heart and aorta)
    • a periodic eye examination by an ophthalmologist
    • monitoring of the skeletal system for abnormalities
    • lifestyle adjustments (to reduce the risk of injury to the aorta)

    Genetic counseling is important for people who have Marfan syndrome and are planning to have a family. If one parent has the disorder, there's a 50 percent chance for each child to also have Marfan syndrome.

    Women who have Marfan syndrome have significant risks to their health during pregnancy, since pregnancy puts added stress on the mother's heart. Marfan patients are often cautioned against pregnancy to reduce the risk of injury to the aorta.

    As she grows: your child's long-term outlook

    Surgical and non-surgical techniques for treating Marfan syndrome are continually being refined, with long-term outcomes constantly improving. Still, Marfan patients will need lifelong monitoring and possibly medication, since they'll always be at some risk for infections and other heart problems.

    Most people who've had congenital heart disease will have an ongoing relationship with their cardiologist. Your child's cardiologist will help you create a long-term care program as she matures into the teen years and adulthood. Children's Cardiology Department can help prevent and treat complications, and will advise you on daily-life issues such as activity levels, nutrition and precautions related to pregnancy.

    Coping and support

    Shock, guilt, sadness, anger—all are natural reactions when your child has been diagnosed with Marfan syndrome. It's normal to go through a range of emotions. Fortunately, there's a lot of help available to you.

    At Boston Children's, we understand that a hospital visit can be difficult, and sometimes overwhelming. So, we offer many amenities to make your child's—and your own—hospital experience as pleasant as possible. Visit The Center for Families for all you need to know about:

    • getting to Boston Children's
    • accommodations
    • navigating the hospital experience
    • resources that are available for your family

    In particular, we understand that you'll have a lot of questions if your child is diagnosed with Marfan syndrome. How will it affect my child long term? What do we do next? We can connect you with a number of resources to help you and your family through this difficult time, including:

    • patient education: From the first office visit to treatment and recovery, our staff will be on hand to walk you through your child's treatment and help answer any questions you may have—Will my child need surgery? What will her recovery be like? We'll also reach out to you by phone, continuing the care and support you received while at Children's.
       
    • parent-to-parent: Want to talk with someone whose child has been diagnosed with Marfan syndrome? We can often put you in touch with other families who've been through the same experience that you and your child are facing.
    • support groups: Children's is actively involved with the National Marfan Foundation, which provides research, education and support services to families and children with Marfan syndrome.
    • faith-based support: If you and your family need spiritual support, we can connect you with the Boston Children's chaplaincy. Our program includes nearly a dozen clergy representing Protestant, Jewish, Muslim, Roman Catholic and other faith traditions, who will listen to you, pray with you and help you observe your own faith practices during your treatment experience.
    • social work and mental health professionals: Our social workers and mental health clinicians have helped many families in your situation. We can offer counseling and help with issues such as:
      • coping with your child's diagnosis
      • stresses relating to illness in the family
      • dealing with financial difficulties
         
    • help for adult Marfan patients: As your child reaches adulthood, you'll want her to know that Children's offers help to adults who have Marfan syndrome. Many adults who were patients as babies or children continue to be monitored by the Boston Children's clinicians who've followed them since childhood, so we've developed a special expertise in managing Marfan syndrome across the lifespan.

      If you're an adult who has Marfan syndrome—even if you weren't treated at Boston Children's as a child—and you'd like to know more, contact our Cardiovascular Genetics Program at 617-355-8794, or email us at cardiacgenetics@cardio.chboston.org.

    The Experience Journal

    Designed by Boston Children's psychiatrist-in-chief David DeMaso, MD, and members of his team, the Experience Journal is an online collection of thoughts, reflections and advice from kids, parents and other caregivers about a variety of medical experiences.

  • Boston Children's Hospital is constantly looking for ways to prevent and treat diseases and disorders, including Marfan syndrome.

    Problem: Marfan syndrome affects one in 5,000 Americans and weakens the aorta (the blood vessel that carries blood away from the heart to the body), often causing the vessel wall to bulge, forming an aneurysm.

    Innovative solution: Traditional treatment for Marfan syndrome often includes beta blockers to lower blood pressure and reduce stress on the aorta. But researchers at Children’s may have found a better solution: We’re testing the blood pressure drug losartan, which may strengthen the aorta and help prevent aortic aneurysms.

    Losartan inhibits signaling by transforming growth factor-beta, a protein now known to be overactive in Marfan syndrome, and blocks a cascade of cellular events that weaken aortic tissue. In a landmark 2006 study, losartan completely prevented aortic aneurysms in mice with Marfan syndrome—and even reversed existing aortic damage.

    A Phase III trial, one of the largest Marfan studies ever done andco-led by Ronald Lacro, MD, director of Boston Children’s Cardiovascular Genetics Program, has enrolled about 600 patients from 6 months to 25 years of age, as patients in this age group tend to experience the greatest incidence of cardiovascular-related complications.The patients have been randomly assigned to receive either losartan or the beta-blocker atenolol, and are being closely followed for three years.

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