 Marfan Syndrome
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Marfan syndrome is a disorder involving the body's connective tissue. Connective tissue has many important functions, including the following:
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- assisting with 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
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A defective (FBN1) gene associated with Marfan syndrome affects the formation of a protein in connective tissue called fibrillin, which impacts the integrity of many organs and structures in the body. Organs and body systems that can be impacted include, but are not limited to, the following:
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- heart and major blood vessels
- lungs
- skeletal system
- spinal cord
- eyes
- skin
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An estimated 50,000 people in the United States have Marfan syndrome (or three out of every 5,000 people). Marfan syndrome occurs in equal numbers in males and females, and also appears equally in all races and ethnic groups. It occurs in one in 20,000 livebirths.
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Marfan syndrome is caused by an abnormality (or mutation) in one specific gene (FBN1). Up to 75 percent of the time, this mutated gene is inherited from a parent who is affected.
Nearly 25 percent of the time, cases are thought to be caused by new mutations in the family (not inherited from a parent). Scientists have noted that offspring of fathers who are older (than the norm) at the time of conception may be affected by this gene mutation more often than others. Mutations occur sporadically (by chance) in the sperm of older men (over 45 years) who father children at a rate of 1 percent. These "point mutations" can result in Marfan syndrome, or other disorders, depending on which gene is accidentally altered.
Marfan syndrome is an autosomal dominant disorder. This means that each offspring of an affected parent will have a 50 percent chance of also being born with the disorder. Similarly, when a child is born with Marfan syndrome to unaffected parents, the child will have a 50 percent risk of passing the gene on to the next generation.
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Children with Marfan syndrome are at risk for serious problems involving the cardiovascular system, including the following:
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- mitral valve prolapse
- arrhythmia (or dysrhythmia)
- aortic regurgitation
- aortic dissection
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A deficiency of fibrillin in connective tissue creates the abnormalities in organs and body structures that may be seen with Marfan syndrome. An extensive list of abnormalities can occur with the disorder; only symptoms listed as "major criteria" are listed below. Other symptoms may be noted that contribute to the certainty of the diagnosis. Each child may experience symptoms differently. Symptoms may include:
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- heart and blood vessels
- leakage of the aortic valve (aortic regurgitation)
- tears in the aorta (aortic dissection)
- skeletal
- deformities of the breastbone
- scoliosis - a lateral, or sideways curvature and rotation of the misalignment of certain bones
- eye
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The symptoms of Marfan syndrome may resemble other problems or medical conditions. Always consult your child's physician for a diagnosis.
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In addition to a complete medical history and physical examination, your child's physician may complete a family medical history to look for other family members with known Marfan syndrome or some of the characteristics of the disease.
Other diagnostic tests for Marfan syndrome may include the following:
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- electrocardiogram (ECG or EKG)
- echocardiography (echo)
- complete eye examination
- x-ray
- DNA studies
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In order to be diagnosed with Marfan syndrome, your child must exhibit several characteristics from a detailed list. Your child needs to have a significant number of the symptoms on the checklist in order to be diagnosed with the disorder. Your child's physician will make the diagnosis based on medical and family history and other factors, as well as symptoms your child may exhibit.
Marfan syndrome may be easier to diagnose as children age, as many of the features of the disorder become more obvious as your child grows.
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Specific treatment for Marfan syndrome will be determined by your child's physician based on:
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- your child's age, overall health, and medical history
- extent of the disorder
- your child's tolerance for specific medications or procedures
- your opinion or preference
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At the present time, there is no cure for the disorder. Treatment is based on determining which organ systems are affected and managing the problems that arise. Recommendations for managing Marfan syndrome may include the following:
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- an annual echocardiogram, or echo (to monitor the heart and aorta)
- periodic eye examination by an ophthalmologist
- monitoring of the skeletal system for abnormalities
- lifestyle adjustments (to reduce the risk of injury to the aorta)
- the use of antibiotics before dental procedures
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Genetic counseling is important for people who have Marfan syndrome and are planning to have a family. If one parent has the disorder, there is a 50 percent chance, with each pregnancy, for a child to also have Marfan syndrome. In addition, women with Marfan syndrome who become pregnant have significant risks for their health during pregnancy, due to the added stress that a pregnancy puts on the heart. Avoidance of pregnancy is often recommended to reduce the risk of injury to the aorta.
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Heart and blood vessel problems pose the largest threat to a person with Marfan syndrome, which emphasizes the importance of regular evaluation by your child's physician. Consult your child's physician for more information regarding the specific outlook for your child.
With advances in the diagnosis, evaluation, and management of the organ abnormalities associated with Marfan syndrome, the life expectancy for a person with the disease has nearly doubled in the past 25 years, rising to 61 years in 1996.
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Contact Children's Hospital Boston Cardiovascular Program physicians for a second opinion.
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