Marfan Syndrome Essay, Research Paper

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 fibrillin, 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 fibrillin-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 lentis). 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, hyperextensible joints, pes planus, 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 Marfans 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

orthodontal 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

fibrillin gene, and the specifics of the syndrome?s occuring mutations, so in

the future they will be able to more decisively identify Marfans for quicker

treatment, and possibly one day arrive at a cure.