Marfan syndrome, or MFS, is a disorder of the connective tissue brought on by a mutation in the FBN1 gene on chromosome 15. Because connective tissue occurs throughout the human physique, Marfan syndrome affects the patient’s eyes, circulatory system, skin, and lungs as well as the bones and muscles. The disorder is named for Antoine Marfan (1858-1942), a French pediatrician who first described it in a five-year-old girl. The gene responsible for MFS was identified in 1991 by Francesco Ramirez, a researcher at Mount Sinai Medical Center in New York.
Marfan syndrome is a hereditary connective tissue disorder brought on by mutations in the FBN1 gene. This gene is responsible for the production of elastic fibers in connective tissue and for the correct timing of the release of growth elements. People with defective FBN1 genes are not affected with equal severity, however; a minimum of 137 different mutations of the gene have been identified. Some people may have only a few of the characteristic functions of MFS, while at the other extreme, some babies are born with a severe type of the syndrome that progresses quickly to early death from heart problems.
The classic indicators of Marfan syndrome are lengthy, thin arms and legs, bone overgrowth, and loose joints or poor muscle tone. Probably the most common signs and symptoms of MFS, however, are eye disorders, such as an increased risk of cataracts, dislocation of the lens of the eye, nearsightedness, and glaucoma.
These impact more than 50 percent of patients. Skeletal deformities are an additional common characteristic, particularly scoliosis (abnormal curvature of the spine) and deformities of the ribs and breastbone. Probably the most damaging well being problems associated with Marfan syndrome, however, are those involving the heart and circulatory system.
The weakness of the connective tissue in patients with MFS leads to damaged heart valves, a weakened aorta (the large blood vessel that carries blood away from the heart), enlargement of the pulmonary artery (which carries blood from the heart to the lungs), or an aortic dissection. An aortic dissection is really a medical emergency that occurs when a tear in the wall of the aorta permits blood being pumped from the heart under pressure to force its way between the layers of tissue that type the aorta. The separation of the tissue layers can lead to a complete rupture of the aorta and rapid death.
The cause of Marfan syndrome is really a mutation in the FBN1 gene on chromosome 15. You will find nearly 140 mutations of this gene that have been identified as of 2008. The gene governs the production of a protein called fibrillin-1, which helps to type tiny threadlike filaments that turn out to be component of the fibers in connective tissue. The tiny filaments also control the release of growth elements, that are protein molecules that stimulate the growth and multiplication of cells.
In regular circumstances, the filaments release these growth factors at the proper time; but in Marfan syndrome, the filaments release the growth elements too soon. The defective fibrillin-1 produced by a mutated FBN1 gene will thus outcome not only in weakened connective tissue but also in the unusual height and lengthy arms characteristic of MFS patients. The symptoms in organ systems most commonly affected by MFS are:
Other signs and symptoms that some patients with MFS experience include:
The diagnosis of Marfan syndrome is complicated for a number of factors. One is that there is no single genetic test that can identify all of the recognized mutations of the FBN1 gene. An additional is that some of the signs and symptoms of MFS are also found in other connective tissue disorders. A third cause is that some symptoms are age-specific; that is, the affected person may need to reach his or her full height for the abnormal growth pattern to be clear, or to reach adulthood to develop some of the eye disorders associated with MFS.
It is not unusual for young adult athletes to die from undiagnosed Marfan syndrome; Flo Hyman (1954-1986), who won a silver medal in volleyball in the 1984 Olympics, died all of a sudden of an aortic dissection during a volleyball game in 1986. The diagnosis of Marfan syndrome is therefore according to a combination of the patient’s symptoms, family history, and any information that may be obtained via genetic testing.
You will find a number of different sets of criteria that the patient’s doctor may follow to arrive at the diagnosis. The four signs and symptoms that are weighted most heavily are dilation of the aorta; dislocation of the lens of the eye; weakening of the membrane covering the spinal cord; and 4 or more of the skeletal changes related with MFS. The following tests are usually ordered as part of the diagnostic process:
Treatment of Marfan syndrome demands a team of specialists rather than just one doctor. The typical pattern would be to treat health problems as they arise. A child diagnosed with MFS, for instance, will generally need to see an ophthalmologist (eye physician), pediatrician, orthodontist, and cardiologist (heart specialist). Adolescents may need to be treated by an orthopaedic surgeon if they have developed scoliosis or chest deformities.
A neurologist may be consulted to treat complications involving the spinal cord. To slow down the dilation of the aorta, even children are now given beta blockers, that are medications that cause the heart to beat more gradually and with much less force. If the aorta enlarges to a certain size (about 2 inches [5 centimeters]), it's usually treated surgically.
The surgeon will replace the weakened part of the aorta with a tube of synthetic material. Surgery may also be done to replace damaged or defective heart valves or to correct scoliosis or chest deformities. Individuals diagnosed with MFS should be careful to have normal eye examinations, echocardiograms, and other checkups intended to stop the complications of the disease.
They should also make numerous lifestyle adjustments, such as not smoking simply because of the possibility of severe lung damage. They are advised to steer clear of get in touch with sports, weight lifting, and competitive sports like marathon running, although swimming, yoga, and walking are recommended types of healthy physical exercise. Ladies with Marfan syndrome who select to start a family must be cautiously monitored throughout pregnancy simply because of the additional strain that pregnancy locations on a woman’s heart.
The prognosis for MFS patients has been significantly improved by early diagnosis and treatment. With out treatment, most patients with Marfan syndrome die in their early thirties from heart problems or aortic dissection. In the early 2000s, nevertheless, the life expectancy of individuals with MFS has been increased to sixty to seventy years, thanks to contemporary heart medicines and surgical strategies.
Marfan syndrome cannot be completely prevented because new mutations of the FBN1 gene will continue to arise. However, individuals having a family history of MFS should consider genetic counseling because it requires only one copy of the defective gene to create Marfan syndrome. A parent who has Marfan syndrome has a 50 percent opportunity of having a child with the disorder.
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