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.