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Marfan Syndrome is an autosomal dominant disorder, affecting approximately one in ten-thousand people. Its affects both males and females equally, and is equally prevalent in all races. About one in four affected individuals are the result of new mutations, however in most cases the syndrome is inherited from one parent with the disorder. In 1991 the cause of Marfan Syndrome was traced to a defective gene on chromosome 15. This gene, with normal functioning, tells the body to produce fibrilla, a protein and an essential component of connective tissue, (The March Of Dimes Birth Defects Foundation, 1993). All occurrences of Marfan Syndrome are thought to be the result of a mutation of the fibrilla- 1 gene (OMIM Entry # 154700) with the varying afflictions hypothesized to be the result of alterations in the synthesis, secretion, or matrix incorporation of the molecule, (McGookey et al. , 1990).
The effects of Marfan Syndrome are located in the ocular, skeletal and cardiovascular systems of the body, (Cummings, 1998). Although Marfan Syndrome shows pleotrophism and clinical variability, there are several commonalities among phenotypes of affected individuals. For the skeletal system these include increased height, disproportionately long limbs and digits, anterior chest deformity, mild to moderate joint laxity, vertebral column deformity (scoliosis and thoracic lordosis), and a narrow, highly arched palate with crowding of the teeth. Ocular attributes of affected individuals include myopia, increased axial globe length, corneal flatness, and subluxation of the lenses (ectopia lewis). And cardiovascular features include mitral valve prolapse, mitral regurgitation, dilatation of the aortic root, and aortic regurgitation. As to date, there is no single conclusive test to diagnose Marfan Syndrome.
Doctors familiar with the syndrome? s symptoms may successfully diagnose Marfan following testing of the heart, aorta, eyes, or other body parts, however due to both the diversity of the symptoms and their range in severity, its detection is often difficult. In a study performed on young infants, in which Marfan was successfully diagnosed within the first three months, it was found that serious cardiac pathology may be present at birth, often with congenital contractures present as well, (Morse, 1990). Some other findings included arachnodactyly, dolichocephaly, a characteristic facies, a high-arched palate, micrognathia, hyper extensible joints, pes plans, anterior chest deformity, iridodenesis, megalocornea, and dislocated lenses. A useful method for determining the extent of cardiovascular involvement in affected infants is echocardiography, a noninvasive procedure, which may also be used to later track further developments due to the syndrome.
Prenatally, symptoms such as cardiomegaly and aortic dilatation may be detected through a routine ultrasonography. A prompt diagnosis of Marfan Syndrome in infants can facilitate management and counseling for an affected individual, and usually result in a much longer, more comfortable life. Following diagnosis of Marfan Syndrome, there are several different ways in which doctors go about treating the different symptoms of the disease. In general, afflicted individuals are cautioned not to partake in rigorous activities such as contact sports, or heavy lifting, as the danger of the increased blood pressure could lead to the sudden splitting of the aorta, the number one cause of death. Regular checkups, including heart tests and aorta examinations using ultrasound also help to detect early problems before they become life-threatening. Medication for high blood pressure, called beta blockers, are also prescribed to patients with Marfan's to help reduce strain on the aorta, , (The March Of Dimes Birth Defects Foundation, 1993).
In the case of aortic dilation an operation can be performed in which the faulty valve, along with a section of the aorta, is replaced with an artificial valve attached to a four-inch synthetic tube. For symptoms such as spinal curvature braces can be implemented, for crowded teeth, an orthogonal work. And for cases of a detached retina, individuals have the option of corrective laser surgery. Currently there is no cure for Marfan Syndrome, however geneticists are attempting to further expand their knowledge of both the fibrilla gene, and the specifics of the syndrome?
s occuring mutations, so in the future they will be able to more decisively identify Marfan's for quicker treatment, and possibly one day arrive at a cure.
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