Early diagnosis and proper management of Marfan syndrome are vital to ensuring the hope for a long and successful life with the disorder. This section will provide infromation on diagnosis and some of the important issues children may face in living with Marfan syndrome.
Q&A
Free Resources for Children and Teens
Q & A
Why is it so important for children who have Marfan syndrome to get the diagnosis at a young age?
Diagnosis of children with Marfan syndrome is so important because treatments and lifestyle adaptations that are started early in life can have long-term benefits. However, because children are growing, and because Marfan syndrome is a dynamic condition that can manifest itself differently as the child ages, diagnosis can sometimes be frustrating for families. If a parent has Marfan syndrome, it is essential to alert the hospital nursery when the child is born so that the appropriate evaluation is performed. The family pediatrician should also be involved as early as possible.
If a child is diagnosed with Marfan syndrome, a good family history should be taken. Immediate family members, especially parents and siblings, are encouraged to come in for an evaluation including an echocardiogram. If findings in family members are subtle, a complete clinical evaluation is recommended because of the degree of variation of the disorder, even in the same family. Family members are also encouraged to speak with a geneticist about their concerns, fears and questions. For more information, see the section on diagnosis of Marfan Syndrome. If you need help finding a knowledgable physician, see Find a Doctor.
What are the diagnostic possibilities for children who are being evaluated for Marfan syndrome?
There are many diagnostic possibilities for children. If they meet the diagnostic criteria on the first visit, Marfan syndrome can be confirmed and management can begin. However, there are often shades of gray. Marfan syndrome could emerge later or they may have a related disorder in which not all body systems affected by Marfan syndrome will be impacted. These may include:
- Emerging Marfan syndrome-- the child fails to meet the criteria at first, but has definite manifestations that, at a later date, may meet the criteria.
- MASS phenotype-- the characteristics of Mitral valve prolapse, borderline Aortic involvement and Skin and Skeletal findings.
- Mitral valve prolapse syndrome-- mitral valve prolapse accompanied by skeletal features of Marfan syndrome.
- Familial aortic aneurysm-- aortic enlargement with or without skeletal features.
- Loyes-Dietz syndrome-- has many similarities to Marfan syndrome, but also many significant and potentially life threatening differences.
- Isolated ectopia lentis (lens dislocation)-- often is accompanied by the skeletal features of Marfan syndrome.
What type of medical follow-up is recommended if the child does not yet meet the criteria for a Marfan syndrome diagnosis?
If a child has aortic enlargemnt, he or she should be treated for it regardless of whether or not he or she meets the diagnostic criteria for Marfan syndrome. The doctor may prescribe medication to reduce the stress on the aorta, and exercise should be restricted. Close follow-up with echocardiograms should be conducted.
If a child does not have aortic enlargement, but does have features suggestive of Marfan syndrome (even though they may not meet the diagnostic criteria), he or she should be followed periodically to ensure that further criteria do not emerge. The doctor will determine if any special treatment or exercise restrictions are necessary.
In other words, regardless of the official diagnosis (or lack thereof) it is important to treat the symptoms that do exist and follow up on a regular basis.
Does a Marfan syndrome diagnosis at birth indicate anything about the possible course of the disorder?
The diagnosis of Marfan syndrome immediately at birth is only somewhat predictive of final outcome. One variant of Marfan syndrome seen at birth presents with extreme characteristics, including severe heart involvement that can lead to congestive heart failure. Some people refer to this as “infantile Marfan syndrome,” but this is not a distinct disorder separate from Marfan syndrome, and the term is rarely used.
Other variants of the disorder seen at birth are correlated with more subtle features, especially when there is a long family history of Marfan syndrome. In these cases, a child is no worse off because he or she was diagnosed at birth. While the timing of the diagnosis (at birth) does not necessarily indicate what the future holds for the child, how the disorder affects other family members can provide some predictive information.
When are beta-blockers prescribed?
If a child does not meet the criteria for Marfan syndrome, but does have aortic enlargement, beta-blockers, exercise restriction and a follow up echocardiogram are usually prescribed. If a child doesn't have Marfan syndrome or aortic enlargement, but does have some other features that suggest Marfan syndrome, medication is not necessary. However, it is important to have follow-up echocardiograms until the end of growth to ensure that aortic enlargement doesn't develop.
Very young children in the general population naturally have a higher heart rate than older children or adults. In children under the age of 5, the target heart rate with beta-blockers is under 110 beats per minute after submaximal exercise. Children over 5 (and adults) should have a heart rate under 100. Beta-blockers shouldn’t lower the blood pressure to the point where a child can’t maintain normal activities. If the heart rate is too low, a child may also experience dizziness. A momentary loss of balance when standing up quickly is tolerable, but parents should speak with the physician if the dizziness continues.
Beta-blockers aggravate asthma and should only be used if the asthma is mild and under control without the constant use of other medications. Calcium channel blockers are an effective alternative to beta-blockers and do not aggravate asthma.
A clinical trial is currently underway to compare the effects of atenolol (a beta-blocker) vs. losartan (an angiotensin receptor blocker) in people with Marfan syndrome. People ages 6 months to 25 years old are eligible to participate. More information.
Which beta-blocker is prescribed for children and how much should they take?
Infants are often prescribed propanalol because it is available in a liquid form. Older children are often prescribed atenelol (tenormin). The amount of beta-blocker prescribed should be individualized depending on the child's response to the medication. Enough should be prescribed to achieve the desired effect on the heart rate.
Are their side effects of beta-blockers problematic?
Beta-blockers are generally well tolerated, although some people do experience lethargy and/or stomach upset. Most children do not experience any problems in school as a result of the medication. Beta-blockers should not be used for children with severe asthma or reactive airway disease. Instead, a calcium channel blocker, such as verapamil, can be used to lower the heart rate.
Are children with Marfan syndrome at risk of aortic dissection?
Very few aortic dissections or ruptures occur in childhood. Concern does arise if the aorta grows to two times the average for the child's body size or two times the upper limit of "normal" for the child's body surface area. Other causes for more aggressive treatment (potential for surgery) are rapid increase in the rate of aortic growth and the growth of the aortic size to the adult limit of 5.5 cm.
When and why should aortic surgery be considered in children with Marfan syndrome?
Aortic enlargement, which can begin when a child with Marfan syndrome is quite young, can eventually lead to aortic regurgitation and aortic dissection. While aortic dissection is not common in children with Marfan syndrome, routine monitoring of the size and function of the aorta and aortic valve is necessary to ensure that they remain within a safe range.
A number of factors should be considered when determining whether or not a child with Marfan syndrome requires aortic surgery. These include:
- Quality of life of the child
- Child’s specific aortic measurements
- Natural history of the disorder in the child
- Other treatment options and their risks and benefits.
Prior data (past echocardiograms) is important to consider because the rate of enlargement is critical to the decision-making process. If the size increases more than 1 cm a year, surgery should be considered.
Aortic measurements must be evaluated in conjunction with the size of the child. If the size of the aorta is two times “normal,” it is potentially beneficial to do surgery. If a child’s aorta exceeds the value where an adult would have surgery (5-5.5 cm), surgery would also be recommended. Because of the importance of the measurements, the echocardiograms must be accurate. The accuracy can be affected by image quality, patient characteristics, equipment (including transducers), sonographer experience/ability, physician involvement and interpretation. New developments in aorta imaging are expected to be beneficial to children, as well as adults, with Marfan syndrome.
The challenges in decision-making for children arise because the guidelines are not based on solid data (related to low incidence of dissection) and because correct decisions are hard to make if patient specific data is imprecise.
Other factors that influence the timing of aortic surgery are:
- Other surgical indications present
- Increasing aortic regurgitation
- Aortic annulus size when valve replacement likely
- Family history of dissection
Can children with Marfan syndrome exercise?
Exercise is important for all children, including those with Marfan syndrome. Stress to children that there is more that they can do than they cannot do. Every child is different. Individual circumstances dictate the course of action.
Sustained elevation of the heart rate and blood pressure can promote aortic enlargement in children with Marfan syndrome. A sharp blow to the head, which is a possible occurrence in many sports, can also be harmful to the eyes, which have weakened connective tissue in people who are affected. Sports may also cause joint discomfort for affected people. Therefore, children (and adults) with Marfan syndrome should avoid contact sports, competitive sports and isometric exercise.
Exercise in moderation is appropriate for children with Marfan syndrome. “Moderation” means that they shouldn’t exercise to the point of exhaustion. If they are breathless and sweaty after an activity, they have exceeded what is considered “moderate” exercise. They should avoid repetitive pounding movements, which can be dangerous to the joints. They should also avoid contact sports and isometric activities that involve muscle straining. Dance is encouraged because of its aerobic value and low impact.
If a child has leg cramps, they should stretch frequently and their potassium intake should be monitored. Other joint pain may be caused by growing pains,constant use/exertion, or overcompensation for joint laxity. High-top shoes or an arch support may provide some relief.
It is important for parents to help children identify appropriate activities early on, before a particular activity defines them and their peer group. For example, while pee wee soccer may be ok for a child with Marfan syndrome, the competition will heat up in later years and the child would be forced to give it up. It is better to direct children early into activities that can be life-long endeavors than to involve them in sports that will undoubtedly be too rigorous for them once they pass the beginner level.
For more informaiton, see Physical Activity Guidelines.
Are there any nutritional therapies that are beneficial to children with Marfan syndrome?
No special diet is recommended for children or adults with Marfan syndrome. In general, we support the national nutritional guidelines that advocate a low fat and low salt diet, with appropriate portions of vegetables, fruits and grains related to age and overall body weight.
What are some other concerns for children with Marfan syndrome?
Cardiovascular Infection/Endocarditis
People, including children, who have had aortic repair or have an artificial heart valve are at high risk for cardiovascular infection. Therefore, antibiotics may be needed prior to dental work to prevent infection from bacteria entering the bloodstream. There is also a low risk of cardiovascular infection for people with mitral valve prolapse with regular or thickened valve leaflets. The pediatrician, cardiologist and dentist can, together, determine the correct antibiotic dosage for the individual child. For more information antibiotics and dental work, read the section on Endocarditis Prophylaxis.
Headaches
There is new information that migraine headaches are established and sustained due to excess blood flow to the covering of the brain and the subsequent inflammation. Beta-blockers are considered a primary treatment to prevent migraines. Children with Marfan syndrome may be hesitant to tell parents about headaches because they may not want to take additional medication. Some migraines are caused by visual problems, so an examination by an ophthalmologist may be in order. Keeping a log is also useful to determine what the migraine trigger may be. It is important to talk to children, discuss their concerns and how they feel to get their cooperation in treatments and compliance.
Body image
Body image may be an issue for a child with Marfan syndrome who is tall and gangly. Lifting weights puts too much pressure on the blood vessels and should not be pursued. People with Marfan syndrome do seem to have trouble building muscle mass, but there is no definitive data yet as to the cause. The metabolism of affected people appears to be normal, although many have a problem gaining weight when they are young. To combat this, add healthy snacks that have calories, rather than junk foods that are pure sugar.
Roller Coasters
Many parents of children with Marfan syndrome are concerned about roller coasters. The safety or potential harm depends on the intensity of the experience on the roller coaster and the specific response of the child.
Trampolines
Trampolines are dangerous for all children, due to the potential for neck injuries. Trampolines also put children with Marfan syndrome at risk for eye injuries and damage to the skeletal system.
Should parents talk to their children about Marfan syndrome?
Parents should be open and honest with their child about Marfan syndrome. The child will absorb the information when he or she is ready. Be positive, be informative and provide role models. Help them teach their friends about Marfan syndrome. Stress your child's abilities, and show them that their differences are minor (not "bad").
How can I talk to my child about health tests and heart surgery?
Excerpt from “The Heart of a Child” by Catherine Neill, M.D. (1992):
Parents know their own child best, and so they are in a better position than anyone else to explain to the child what is coming up. It is usually a good idea to be very open, to explain that something needs fixing, and that it will be necessary for the child to be in the hospital for a few days. The child should be reassured that one of the parents will room in, if this is allowed, and the other will visit frequently. Pictures of the playroom in the hospital often help, and the child can plan what toys to take.
Some parents, despite their own anxiety, manage to convey a sense of adventure. This is a great help to the child. In general, young children have little fear of death, so they are more worried about separation than the other aspects of being in the hospital. If they know their parents are close by and will remain with them, they come through the stay with few signs of stress.
We do not know how much children understand about their bodies, but even a quite young child may have an idea of the heart and circulation. Even so, elaborate explanations may lead to the use of unfamiliar terms, some which may alarm the child. For this reason, parents are advised to use clear and simple language when discussing what lies ahead. We have found that when an adult talks to a young child about a hospital stay, simplicity, confidence and optimism are the keys to a happy experience.
If the child is a teenager, the situation is different. It is quite important that the health team and the family discuss any possible risks with the teenager in honest, yet optimistic, terms. Sometimes an older relative has recently been hospitalized and has had many complications or even died. It is best to talk about what happened, not in detail, but stressing how different heart surgery is in a sick, elderly person. Talking with another teen that has had a similar heart problem helps some teenagers. Such a meeting and discussion can be offered, but should never be insisted upon, as individuals differ in how much they wish to talk to someone who is not already a friend.
At all times, the parents are primary in helping the child before, during and after the stress of surgery. But the health team can make a valuable contribution to the triangle of understanding by allowing the child to have as much autonomy as possible and by keeping the child's safety, dignity, and happiness ever in the forefront of all treatment.
How can I advocate for my child at school?
Parents, teachers and care-providers should be educated regarding potential impediments to learning in Marfan syndrome, such as poor visual acuity, impaired motor skills, low self-esteem because of physical limitations, and side effects of selected therapies.
Some children and adults find that beta-blockers cause a sense of physical or mental fatigue, either of which might affect concentration. Frequently, these side effects become less burdensome after several months of taking the medication. Occasionally, the dosage needs to be adjusted or an alternative medication selected.
The more knowledge the school has about Marfan syndrome, the better things are going to be for your child. Parents should express the needs of their children and advocate on their behalf as they grow older. Approach the school district in a friendly manner and set up frequent check-in times with the school. Become involved with your child’s school. Form an alliance with the guidance counselor and school nurse, and meet with the special education teacher to determine if an individualized education plan is needed.
When working with your child, focus and build upon the areas in which he or she excels, rather than comparisons with other children. Ask your child's teacher to focus this way, as well. When your child becomes angry or frustrated, help him to express this in appropriate ways.
It is essential to give a child with Marfan syndrome every chance to maximize his or her potential in school - whether it requires sitting closer to the front of the classroom to see the board better, providing extra time to get to the next class, or participating in activities to the greatest extent possible. If a child has difficulty in school with fine motor skills, some options are to use a thick writing instrument, a computer and oral testing. If necessary, work with your child’s teacher to eliminate potential obstacles to learning. Arrange for your child to sit in the first row and receive printouts of board work so he doesn’t have to struggle to read the blackboard. Ask for a second set of textbooks so that the child doesn’t have to carry one set back and forth to school. Ask for extra time for testing or an aide to help fill in answers if visual problems make it difficult for the child to complete tests in the specified time frame. Do not expect that a child will be allowed to turn in less work, and do not ask for this.
Talk to your child's teachers. Although a child with Marfan syndrome may look older because of the added height, he or she should not be pushed ahead. It is also essential to become knowledgeable about your child’s rights within the school system. Develop a spirit of cooperation among the teachers, administrators and school nurses. Communicate frequently with school personnel and praise them for cooperating with you. In public schools, the school nurse is usually the key contact person. When dealing with school personnel, it is important for parents to address potential problems that could result from visual, cardiac and skeletal problems of Marfan syndrome so that their child is not misdiagnosed as having attention deficit disorder or another learning disability. For example, call attention to the visual problems that result from glare on the chalkboard; the fatigue from writing with long fingers that can cause challenges with handwriting; and the fatigue problems that are caused by cardiac problems.
The NMF offers a special resource, "Marfan Syndrome: Need-to-Know Information for the School Nurse" in the NMF Store. School nurses may request a single copy free.
Invite your pediatrician to attend school meetings and conferences concerning your child.
Encourage your child to get involved with educating his classmates and teachers by doing an age-appropriate project on Marfan syndrome.
At the present time there is no definitive association between Marfan syndrome and Attention Deficit/Hyperactivity Disorder (ADHD) or any other specific learning disability. Learning disabilities, hyperactivity and attention deficit disorder are not unusually common in children with Marfan syndrome; as in the general population any association with these challenges is by chance. Children who are adequately beta-blocked, have had success with Ritalin, when needed.
What else do I need to be concerned with at school?
Physical Education
Children at risk for aortic enlargement or dissection should refrain from collision and contact sports, competitive sports and exercises that involve muscle straining such as weight lifting. They should remain active with supervised low-intensity aerobic activities. There is no need for an overly restricted lifestyle, and children should be encouraged to participate whenever possible.
Educate physical education teachers about Marfan syndrome and what level of activity is acceptable for your child so that they are not fearful that something may happen. Let the PE teacher know that your child can participate in modified activities. If there are certain activities, such as running, that your child cannot do, suggest to the PE teacher that he give your child another assignment, such as being the timer, so that the child is not completely excluded. If the PE teacher remains apprehensive and restrictive, print the Physical Activity Guidelines and take it to the child’s cardiologist. Ask for any restrictions the cardiologist would place on any of the listed activities. Having concrete information will help the doctor be specific with information the teacher can actually use. Parents should learn about local and state regulations regarding the amount of physical activity children are required to have in their school curriculum. Children with disabilities are entitled to have reasonable accommodation to meet their physical education requirements.
We also offer a resource which will help the PE teacher to understand Marfan syndrome, the physical activity restrictions, and how to adapt PE curriculae to enable a child to participate. You may wish to print Physical Education Goals for Children with Marfan Syndrome and give it to the PE teacher.
Social Issues
Young children and adolescents are keenly aware of their bodies, especially variation from ‘normal’ or perceived deficiencies. So are their peers. Children should be taught about Marfan syndrome from an early age. They should learn to become comfortable educating their classmates or even adversaries. Conversations should stress ‘variation’ rather than ‘abnormality’ and talents rather that limitations.
Parents and physicians should be sensitive to the cosmetic issues inherent in Marfan syndrome, and should anticipate or initiate discussions regarding potential solutions such as contact lenses or pectus repair. Finally, it may be useful to identify a role model or age-matched peer with Marfan syndrome to discuss frustrations and opportunities with an affected child.
Help your child by role-playing different situations that are difficult. This will teach your child how to take control and not feel like a victim. It will also provide confidence. Educate your child’s friends and classmates about Marfan syndrome so they can understand the situation. Empower your child. Be positive; children feed off their parents’ attitudes. Teach children to be assertive as they get older so they can become their own advocate.
Free Resources for Children and Teens
The NMF offers two special printed resources free of charge to families with affected children and/or teens thanks to the generous support of the American Legion Child Welfare Foundation, Marfan Syndrome A-Z and Marfan Syndrome: A Guide for Teens. The NMF also offers a third resource free of charge for families with affected children ages 8 to 12, Marfan Does Not Mean Martian, thanks to the generosity of NMF member and author of the book Elias Turner (see below). (Please note, free copies are only avilable in the U.S. and Canada. Visit http://shop.marfan.org to purchase a copy for delivery outside the U.S. and Canada.)
Click here for information on how to order your free copy of Marfan Syndrome A-Z or Marfan Syndrome: A Guide for Teens.
Síndrome de Marfan A a Z" está ahora disponible en español, en línea solamente.
Haga clic aquí para descargar.
("Marfan Syndrome A to Z" is now available in Spanish, online only.
Click here to download. )
Marfan Does Not Mean Martian
Marfan Does Not Mean Martian is an inspirational story about Marvin, a boy diagnosed with Marfan syndrome, and the friendship he builds with his new neighbor Joe. The story educates children about Marfan syndrome while teaching them about diversity and acceptance. This book is appropriate for children ages 8-12 and is a great resource for children and families affected by Marfan syndrome as well as for school classrooms. The NMF is proud to be able to offer families Marfan Does Not Mean Martian written by Elias Turner and illustrated by Alexandra Dubow. Elias Turner was diagnosed with Marfan syndrome in pre-school. Several of his family members are also diagnosed with the disorder. He wrote this book as a project for his biology class during his freshmen year of high school. Elias has generously allowed the National Marfan Foundation to make this book available to the Marfan and related disorders community. Click the image below to view an online version of Marfan Does Not Mean Martian. To receive a free printed copy of Marfan Does Not Mean Martian click here.
How John Was Unique was the first resource offered by the NMF specifically for children. Written in 1984 by Joe and Nancy Hathaway for their son John, it is no longer in print, but the NMF is pleased to offer it here as an Adobe PDF file.
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