Basics of marfan syndrome
Marfan syndrome is a rare hereditary disorder that causes connective tissue to be weaker than normal.
Connective tissue is the most abundant tissue in the body. It supports and protects various other tissues is a vital component of all organs in the body and provides strength and elasticity to blood vessels. Therefore a disorder of connective tissue can cause a variety of abnormal conditions. For people with Marfan syndrome weak connective tissue causes problems of the skin muscles ligaments heart eyes blood vessels and bones.
Marfan syndrome is a genetic disease for which there is currently no cure. However the manifestations of the disease can be managed.
Fertility and pregnancy
Childbearing puts extra strain on the heart. Therefore women with Marfan syndrome should discuss pregnancy and delivery with their doctors.
For people with Marfan syndrome active sports such as track basketball baseball volleyball and football and strenuous activities such as heavy lifting should be avoided because they cause additional heart strain. Since the syndrome may go undiagnosed until adulthood parents who have Marfan syndrome should have their children checked for signs of the syndrome before allowing them to enter competitive sports or vigorous exercise programs. Ask your doctor which activities are safe for you and your children.
Since infections develop easily on defective heart valves antibiotics are usually given before and after any surgery tooth extractions and even after routine dental care.
Adults and children with Marfan syndrome should consider wearing a medic alert bracelet as this information will help doctors provide appropriate care in case of an emergency. Bracelets can be ordered from most pharmacies or by calling 1-800-ID-ALERT.
It is estimated that about one in 10 000 people has Marfan syndrome. This means it affects over 20 000 people in the United States alone. Early diagnosis and treatment allows most individuals to live relatively normal fulfilling lives and may prevent more serious problems. People who have Marfan syndrome in their family should meet with their doctors genetic counselors the National Marfan Foundation and others who have Marfan syndrome to learn all they can about the disorder and how to manage it effectively.
Symptoms of Marfan syndrome may include one or more of the following:
People affected by Marfan syndrome are most often unusually tall and slender with particularly long arms legs and fingers in comparison to the rest of their body. Excessive height in itself is not a serious medical concern but may present adjustment problems for children and adolescents because they are taller than most other children their age. Care must be taken to help children cope with being teased or singled out because of their height. In addition because they are taller than children their own age they appear older and may be expected to behave more maturely. Teachers and parents need to be cautioned against expecting more from these children than is normal for their age.
Children with Marfan syndrome should have regular eye exams beginning at an early age. Nearsightedness (myopia) is a common condition. It can be corrected with prescription glasses or contact lenses. Many children experience problems with the lens of the eye (the focusing structure located just behind the pupil of the eye and held in place by ligaments). The lens can become torn from its supports and become "dislocated." This can cause vision problems that are mild or severe enough to interfere with progress in school. In rare instances the lens may need to be removed surgically.
On rare occasions a child may suffer a detachment of the retina (the light sensitive tissue located at the back of the eye). This causes a sudden loss of vision and requires emergency surgery. Because of this tendency to develop eye problems it is necessary for children to have regular eye exams with an ophthalmologist (eye specialist) to detect and treat these conditions.
People with Marfan syndrome should also protect their eyes from injury during work and sports. Football racquetball squash boxing diving and other activities that may involve blows to the head or face should be avoided.
A child with Marfan syndrome should be checked regularly for curvature of the spine (scoliosis). Children with scoliosis should be referred to an orthopedist (specialist in bone disorders) who may prescribe a removable brace to stabilize the spine. In some cases if the curve worsens in spite of bracing surgery may be recommended. This type of surgery will prevent progression and may even help the spine return to its normal shape.
Breast bone problems
Surgery is occasionally recommended to correct an indented chest if it presses severely on the heart or lungs. Some people without significant heart or lung problems may elect to have corrective chest surgery for purely cosmetic reasons.
Heart problems can occur because Marfan syndrome may cause leakage of the mitral or aortic heart valves. These valves control the flow of blood through the heart. Defects of the mitral valve may cause shortness of breath an irregular pulse and undue tiredness. Defects of the aortic valve can lead to serious heart failure. In addition the main artery in the body the aorta can become dangerously weakened and rupture. Rupture of the aorta has been a cause of sudden death in some people with unsuspected Marfan syndrome. Keep in mind however that serious complications resulting from these conditions can be prevented by early diagnosis and proper treatment.
Because these heart conditions may not produce any obvious symptoms people with Marfan syndrome must have regular checkups by a cardiologist (heart specialist) to monitor the effects of treatment and to detect possible complications. Medications are often prescribed to reduce the strain on the heart valves and the aorta. Some individuals may require surgery to replace the worn or weakened valves or the weakened part of the aorta. This is major surgery but is generally very successful and often life-saving.
An explanation of the way in which genetic disorders are inherited often gives families a better understanding of the Marfan syndrome. Whereas this section briefly describes heredity a genetic counselor may be better able to answer your specific questions and concerns about inheriting Marfan syndrome.
Marfan syndrome is passed on within families from one generation to the next. Just as children may inherit normal features such as brown eyes or curly hair from one or both parents children can also inherit certain disorders.
Whether or not a specific trait or disorder is inherited is determined by hereditary material called "genes." Genes are the units of hereditary material. They contain coded instructions which direct the development of every cell and tissue in the human body. You might think of genes as blueprints specifying how the body will develop and function.
Thousands of genes are found on thread-like structures called chromosomes which are located in the center or "nucleus" of each cell. Genes and chromosomes exist in pairs. At the time of conception each parent contributes one gene and one chromosome from each of his or her gene and chromosome pairs. The genes and chromosomes from each parent combine into new pairs which determine the traits a child inherits.
Most often genes produce normal traits. Sometimes however a gene becomes altered from its original form. A gene that is thus changed is called a "mutant" gene. Although researchers know that mutations occur the reasons for their occurrence is not completely understood. Some mutations are not harmful but most often a mutant gene functions improperly and causes a disorder malfunction or malformation within the body.
Mutations can occur in any generation. If a spontaneous mutation occurs it is then possible for a child to be the first family member to get Marfan syndrome even though both parents are normal.
In addition to mutations the "inheritance pattern" or the way in which genetic traits or disorders are expressed also varies. The Marfan syndrome follows a pattern of inheritance called "autosomal dominant inheritance." "Autosomal" means the inheritance is linked to any chromosome other than those which determine the sex of the child. "Dominant" means the effects of the Marfan gene dominate or override the effects of the normal gene in the pair.
Therefore if one parent contributes the Marfan gene and one parent contributes a normal gene the child will inherit the Marfan disorder. There is a 50% chance during each pregnancy that the affected parent will pass on the Marfan gene and the child will get the Marfan syndrome. There is of course also a 50% chance that the affected parent will pass on his or her normal gene in which case the child will not get the disorder.
It is important to remember that parents have no control over which genes they pass on to their children and therefore should not feel at fault if one of their children inherits a disorder such as Marfan syndrome.
Diagnosis is based on a detailed medical and family history; complete physical examination; height measurement; eye examination by an ophthalmologist; X-rays electrocardiogram (EKG) and echocardiogram of the heart; and X-rays of the spine.
Once a diagnosis is made ask for a referral to appropriate specialists or clinics for treatment. Since symptoms may not be apparent until adulthood families with a history of Marfan syndrome should alert their children's pediatrician.
At this time no test can determine whether an unborn child does or does not have the syndrome.
Health care team
Because this is a rare disorder it is important to meet with a doctor who is knowledgeable about Marfan syndrome. Many pediatricians and arthritis specialists are familiar with Marfan syndrome but if there are none in your area you may consider meeting with a medical geneticist (specialist in inherited diseases). Your family physician the National Marfan Foundation or your local chapter of the March of Dimes can refer you to medical geneticists.
Strategies for coping
Living and coping with a chronic disability regardless of its severity is a challenge for most people.
If you or your children have Marfan syndrome know that there are many ways to adjust and to cope with its symptoms.
Because Marfan syndrome is hereditary most couples express the following concerns about having children. First will the child be affected? If so how seriously? Second will there be problems in pregnancy and childbirth? Third is prenatal diagnosis available? Genetic counselors are especially helpful in answering these questions and discussing a family's concerns. Couples who are planning to have children as well as couples who already have children can benefit from genetic counseling.
When parents first find out their child has Marfan syndrome they and other family members may experience feelings of denial anger blame depression or guilt. These are all normal feelings until the family learns to accept the illness. Acceptance however often takes time and support. Discussing feelings and concerns about Marfan syndrome with your family a friend doctor or genetic counselor can help you and your family adjust more easily. Some family members benefit from discussing their concerns with a medical social worker counseling psychologist or clergyman. Many people find support in sharing information and concerns with others who have the disorder in their family.
Children who have Marfan syndrome may also have a difficult time adjusting to it especially at first. They too may react with feelings of fear anger or depression and will need support from their family friends doctors and teachers.
Some children may face adjustment problems due to their excessive height and poor eyesight. If they feel self-conscious about their height and thick glasses they will often look to their parents and other family members for acceptance and reassurance. Remember too that children's needs and concerns may change depending on their age personality and school environment.
If you have children with Marfan syndrome remind them to be careful yet encourage them to live as normally as possible. Children may need special protection but they also need to play and have friends. Involve your children in activities they can safely enjoy. If they cannot participate in sports as actively as they wish encourage them to develop other talents.
Discuss your children's needs with their teachers. Advise teachers that Marfan syndrome does not affect intelligence but that visual problems often interfere with progress in school and that may affect the child's social and psychological adjustment. Ask teachers to adjust curriculum and special activities as needed. Some children having adjustment problems may benefit from short-term support counseling. Ask your doctor for a referral. Children can also gain support by talking to other children of the same age who also have Marfan syndrome. The National Marfan Foundation can help locate children who are willing to talk with others about their disorder.
Some of this material may also be available in an Arthritis Foundation brochure. Contact the Washington/Alaska Chapter Helpline: (800) 542-0295. If dialing from outside of WA and AK contact the National Helpline: (800) 283-7800.
Adapted from the pamphlet originally prepared for the Arthritis Foundation by Robin L. Bennett MS and Meinhard Robinow M.D. This material is protected by copyright.