FREE ESSAY ON MARFAN SYNDROME

MARFAN SYNDROME

Marfans syndrome is a disorder of connective tissue. Marfans syndrome effects the
skeleton, lungs, eyes, heart, and blood vessels. It can also effect men and women of any
race or ethnic group. Marfans can have fatal consequences and outcomes. It effects one
out of every thousand. Marfans syndrome damages the cardiovascular, musculoskeletal, and
ocular systems of a patient. Without proper diagnosis and treatment, a person's life with
Marfans syndrome could become endangered.
Dr. Antoice Marfan discovered Marfans syndrome in 1896. Through the years the technology
to increase the life expectancy of its patients has grown. It is the most common
inherited disorder. Marfan syndrome is an autosomal dominant disorder that affects the
connective tissue. The connective tissue is the most abundant tissue in the body. It
supports and protects many other tissues in the body. It is a vital component of all
organs and gives strength to blood vessels. Marfan syndrome is linked to FBN1 gene on
chromosome 15.6 Chromosome 15 contains a gene that codes for type I collagen receptors,
cardiac and muscle actin.4 FBN1 encodes a protein. The protein is called fibrillin. This
is essential for the formation of elastic fibers, which are located in the connective
tissues.6 A decrease production of fibrillin causes the gene to mutate.4 Thirty percent
of cases arise from the new mutation of the gene.1 Since fibirllin is present in so many
structures of the body, clinical research of the disease varies with each structure.4 The
degeneration of the elastin leads to aortic dilation or enlargement.1
Marfan syndrome's symptoms are mostly related with the heart. As a child, a marfan
child's heart appears to grow normally. As time goes by the aortic root dilation is
common and there is a rapid increase in aortic size. This causes an increase in heart
complications. Marfan's patients have to undergo multiple and extensive surgeries.
Doctors have to treat many heart problems with marfan patients. One is the treatment of
ascending aortic aneurysm. This is an enlarging sac that is formed by local enlargement
of the wall of the aortic artery. Another surgery used in treating this disorder is the
replacing of a totally new aortic root with a composite valve. Marfan patient's heart
undergoes valve prolapse and regurgitation. Regurgitation is the backward flow of the
blood. This can be due to an imperfect closure of the heart valve. Another heart problem
with Marfan patients is the dilation of the left ventricle. This can result in heart
failure.1 [Beta]-blocker therapy have shown to slow the aortic dilation and prevent
aortic dissection.5 The use of medication has lowered the arterial pressure, regular
aortic imaging, and elective aortic repair of the heart. It also lowers blood pressure.
The medication has prolonged the life expectancy of a Marfan patient by twenty-five
years.3 A Marfan patient should follow the "Three Goals of Medical Management." The first
goal is to "prevent serious aortic complications by minimizing aortic wall stress." The
patient needs to avoid any stress. They should also avoid extensive exercise that could
put more stress on their heart. Pregnancy for a Marfan patient is considered a "high
risk." Pregnancy puts a demand on the cardiovascular system. Pregnant woman with Marfan
syndrome should have an echocardiography every six weeks until birth of the baby. The
second goal is to "prevent bacterial endocarditis." Patients should be provided with
antibodies which helps control high-risk bacterial endocarditis. The third goal is to
"detect cardiovascular manifestations early." The sooner that it is detected the better
chance of surviving and complications.5 Cardiovascular complications is the most leading
cause of death among Marfan patients. Among cardiovascular complications, it is the
aortic dissection or rupture that causes patients to die3. The reason for a decrease in
life is caused by the progressive dilation of the aortic root and ascending aorta. This
causes weakness of the blood vessels. The weakness leads to the aortic valve
regurgitation and aortic dissection. Eighty percent of adults have aortic enlargements.
Symptoms associated with aortic dissection are pain in the front or back of chest, or the
abdomen. The pain is a severe midline pain. Small dissections of the aorta may be
painless or unnoticeable.4 Despite the incredible improvements in the procedure to
prolong life for Marfan patients, about fifty percent of the patients still require
re-operation. The prognosis of Marfan syndrome disease has improved. In 1972 Dr. Murdoch
and his colleges reported a mean age of death of thirty-two years. The cause of death was
aortic complications. In 1993, the mean age of death from Marfan syndrome was forty-one
years. As time goes by the life expectancy of patients increase with studies1. 
Skeletal changes in a Marfan patient is the most obvious symptom to recognize. A Marfan
patient has long thin fingers, long limbs, and tall structure, funnel chest, pigeon
breast, rib deformities from bone overgrowth, and a high arched narrow palate. Skeletal
problems are the most noticeable and easier to detect.4 Their arm span exceeds over
normal. The procedure for the surgery of a protruding or indented chest involves putting
a curved rod through the chest and under the sternum and ribs. The new surgery is
successful and very promising. The muscles in the body lack elasticity, which holds
ligaments and muscles together. Often Marfan patients dislocate their arms, legs, hips,
and fingers.7 A decrease in microfibrilis effects bone growth. This is the result of long
and misshapen bones. There are many methods of detecting Marfans. One method is the wrist
sign of Walker and Murdoch. The thumb and little finger overlap when they are wrapped
around the opposite wrist. Another method is the Steinberg thumb sign. This is when the
thumb extends beyond the ulnar edge of the clenched fist.4 Flat feet of Marfan patients
can be very painful and makes walking difficult. People have totally collapsed arches in
their feet. Most people have to use crutches to walk and maneuver. Marfan patients lose
their elasticity to their ligaments. The ligaments create the arch that holds the foot
upright. Marfan patients tend to have flat feet due to their ligaments. They dislocate
their feet and when they get older. Their collagen breaks down which only creates more
problems. The treatment for the feet is to shorten the ligaments.7 
People with Marfan undergo extensive ocular problems. The ocular changes include subluxed
or dislocated lenses4. The lens of the eyes can become dislocated. The ligaments that
holds the lens capsule together are called "zonules." The zonules start breaking. The
lens slips or dislocates. Marfans may cause a person to have cataracts. Some other common
symptoms of Marfans are glaucoma, myopia, astigmatisms, cataracts, and retinal
detachments.7 The diagnosis of ocular changes is by the age of five. Patients that have
dislocated lenses may have retinal detachment. This is when the "globe of the eye becomes
elongated and the cornea is flat." Bilateral dislocated lenses are displaced superiorly.
People with Marfan undergo crucial eye problems for the rest of their lives. Marfans
damages many parts of the eyes and causes many problems to people's sight.4
Based on some studies, it was thought that Marfan patients have an increase in aneurysms.
After many clinical series and clinical reports, and autopsy, researchers concluded that
this statement was negative. Out of about twenty- five autopsy cases, one case showed an
unruptured aneurysm dialatation. Three patients suffered hemorrhages but tested negative
for aneurysms. Since only one patient out of the twenty- five showed an intracranial
aneurysm, it has been concluded to be not statistically correct. In the end, research
concluded that there is no evidence that Marfan patients are associated with an increased
prevalence of intracranial aneurysms.2 
Today there is no present cure for the Marfan syndrome. For years the studies to improve
diagnosis and surgery have increased. Life expectancy for patients has increased as the
years go by. The National Marfan Foundation is an organization that gets the word out
about this unknown syndrome. The foundation helps raise money for future studies and
gives information to Marfan patients. Many people fight the battle of Marfan syndrome. It
affects three very important parts of the body. It affects the cardiovascular,
musculoskeletal, and ocular system of the body. Because marfan is a disorder that affects
the connective tissues most of the body is therefore damaged. As time goes by the fight
for a cure increases. One day technology and the determination of scientist will find a
cure for Marfan syndrome.