- Diseases, Disorders & Conditions
What Is Marfan Syndrome?
There are many genetic disorders. Marfan Syndrome is just one of those disorders. It affects persons whose parent or parents carry the gene. If only one parent has the gene, the child will have a 50-50 chance of inheriting this disorder. Marfan syndrome affects multiple parts of the boy but mainly the connective tissue itself. Persons with Marfan Syndrome will almost always have tall slender posture, flat feet, high palate with crowded teeth, extraordinarily long arms and legs, curved spine and many times one side of the face or body will appear a bit off center.
Who had it?
There was a famous president whom physicians and scientists now feel may have had this disorder. Can you guess who that president was?
Who can get it?
Although Marfan syndrome is not that common, only one in 5000, it is a devastating disease that can affect other parts of the body besides those already mentioned. In the heart, there may be murmurs, aortal aneuryms, aortic dissection or other valve malformations. A murmur is caused by a valve malformation and the sound of the heart is a swooshing sound, but the damage is that the heart is not pumping blood effectively throughout the body. An aortic aneurysm is a ballooning out of the aortic artery itself, which if it gets large enough can rupture, causing death. An aortic dissection occurs when the aortic artery is not one long straight line from the heart through the abdominal cavity and then branch off into the lower extremities. Instead, in a dissection the artery itself develops small thin tears in its innermost walls, which can then rupture, also causing death. These dissections can be in one place or in multiple areas along the aortic artery.
Of course, problems involving the heart are the most severe complications of Marfan syndrome, for obvious reasons but there can be other complications as well.
What are other complications?
In the eyes, cataracts and glaucoma can both cause blindness. Extreme nearsightedness comes almost from birth. Tears or detachment in the retina also is a complication as well as dislocation of the lens of one or both eyes.
The lungs can also be affected. Some of these complications related to Marfan Syndrome include emphysema, chronic obstructive pulmonary disease, sleep apnea or even a collapse lung.
If someone is diagnosed with Marfan Syndrome, the patient will have a long list of physicians who must be seen on a regular basis. Some of these physicians include an internist, general practitioner, cardiologist, pulmonologist, ophthalmologist and an orthopaedist. The appointment must be kept and all medications must be taken with the patient to every physician appointment. It is imperative that all physicians be kept up to date on every aspect of the persons care and physician orders from every physician seen.
How is it diagnosed?
However, even in this day and age of increased technological advances, especially in the healthcare field, the diagnosis of Marfan Syndrome is not cut and dried. It becomes a combination of family history as well as physical symptoms. The faster the person is diagnosed as a child the better the patient outcome.
Some tests that may be done include an echocardiogram, to detect problems with the function of the heart, echocardiogram which shows a picture or a sonogram of the way the heart is functioning, MRI(magnetic resonance images) or CT scans of the aorta to detect aneurysm or dissections as well as tests for glaucoma with an eye pressure test. Family members can also be tested with a simple blood test to see if they carry the gene itself for Marfan Syndrome and parents may also undergo an echocardiogram to detect problems with the function of their heart.
What are the treatments?
Medications to lower blood pressure, such as beta-blockers and surgery are options that are used to treat Marfan Syndrome. Custom back brace can help if scoliosis causes severe skeletal problems and or pain. Some patients with Marfan Syndrome will have ether a concave chest or a protruding chest bone, both of which may require surgery to correct and prevent further skeletal complications and to relieve pain. Annual eye exams become a must as well as visits in between annual visits if any problems with eyesight are detected or suspected. Do not hesitate, especially parents of children with Marfan Syndrome, to take the patient to the physician or the specialist when any unusual occurrences appear. First and fast action is the best way to counteract any complication related to this disorder.
Who do physicians and scientists believe had Marfan Syndrome?
Many physicians and scientists believe President Abraham Lincoln may have had Marfan Syndrome.