Read the interview below, featuring Dr. Braverman of the National Marfan Foundation (NMF).
Can you tell us more about Marfan Syndrome? What is it?
Marfan syndrome is a genetic disorder of the connective tissue that is due to a change in the gene called FBN1, which leads to an abnormality in the protein fibrillin-1.
Because this abnormal protein is present in so many different structures in our bodies, the features of Marfan syndrome may involve multiple organ systems. The aorta (the largest artery in our body which carries blood away from the heart) develops a weakness, leading to enlargement (aneurysm) and is at risk for tearing (aortic dissection). The mitral valve (one of the heart valves) has excessive tissue and develops a floppiness or what’s called “mitral valve prolapse.”
The lens of the eye may be out of place leading to lens dislocation. Others with Marfan syndrome have severe nearsightedness (myopia). The skeleton has typical features due to the abnormal protein, including tall stature, deformities of the chest wall (which may be indented or protrude), curved spine (scoliosis), long fingers and toes, flat feet and hyperflexibility of the joints. Because some of the outward features of Marfan syndrome (such as tall stature, spine deformities and loose-jointedness) are very common in the normal population, when multiple features of Marfan syndrome are present, further evaluation for the condition is needed in order to make a diagnosis.
Who is most likely to have/get Marfan Syndrome?
Marfan syndrome is an “autosomal dominant” genetic condition affecting approximately 1 in 5000 individuals. That means that if a parent has Marfan syndrome, there is a 50% chance of passing the abnormal gene to each child. Because it is a dominant condition, when someone has the abnormal gene, he/she usually shows the features of the disease. It is estimated that in about 25% of cases, Marfan syndrome is caused by a new change (mutation) in the FBN1 gene. In these instances, neither parent has the abnormal gene, and a new change spontaneously occurred in the affected child.
Marfan syndrome affects both males and females equally and affects all races and nationalities. When a person is diagnosed with Marfan syndrome, it is very important to obtain a very careful family history for the condition and evaluate first degree relatives (parents, siblings, and children of the affected individual) for Marfan syndrome. If there is a family history of thoracic aortic aneurysm or dissection (aneurysm or dissection of the aorta in the chest), it is very important to screen first degree relatives for aneurysms and for Marfan syndrome.
How soon can it be detected?
Marfan syndrome may be detected early in life, but many of the features may not be obvious early on. The skeletal and eye features may become more obvious in childhood or adolescence. Some people have much milder outward features and are not recognized until early adulthood or middle age, due to the presence of an aortic aneurysm, mitral valve prolapse or a sudden aortic dissection. When someone is found to have a dislocated lens of the eye or skeletal features concerning for Marfan syndrome, it is very important to have a comprehensive evaluation. This includes a physical examination by someone knowledgeable about Marfan syndrome, a slit lamp eye examination (by an eye doctor), and an echocardiogram (by a cardiologist).
Marfan syndrome may be suspected by primary care physicians or specialists, and a medical geneticist is often consulted to confirm the diagnosis and help with management. There is a blood test to evaluate for a mutation in the gene FBN1 which can assist in the diagnosis of Marfan syndrome. In people who have the features consistent with Marfan syndrome, a mutation in FBN1 is usually found.
Because Marfan syndrome leads to weakness of the aorta, it is important to avoid certain physical activities to lessen the stress on the aorta. Back-to-school physicals and pre-participation screening before playing in sports play an important role in the recognition of the outward features that could be consistent with Marfan syndrome.
What are the warning signs and what should you do if you think you, or someone you love, is affected?
If a family member has features concerning for Marfan syndrome, such as an aneurysm in the aorta just above the heart, skeletal features of the disease, dislocated lenses or an aortic dissection, then they should be evaluated for the possibility of Marfan syndrome. Because Marfan syndrome is uncommon, many doctors and nurses may not be familiar with the diagnosis and treatment. At the minimum, a careful physical examination looking for the outward features of the condition and taking a detailed family history are important.
If any suspicion for Marfan syndrome is present, a slit lamp (dilated) eye exam by an ophthalmologist (or skilled optometrist) to look for lens dislocation and an echocardiogram by a cardiologist to look for a dilated aorta and mitral valve prolapse are necessary. Medical geneticists typically have experience with making the diagnosis of Marfan syndrome, and there are orthopedic surgeons and cardiologists very knowledgeable about the condition.
The National Marfan Foundation (www.marfan.org) is an outstanding source of information about the diagnosis and management of Marfan syndrome and related disorders, especially for parents and families. The Foundation also has tool specifically for school nurses.
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