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MARFAN SYNDROME
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BY MELISSA STEVENS
May 22, 2014 southeastern college

Abstract
Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. There is no cure for Marfan syndrome. To develop one, scientists may have to identify and change the specific gene responsible for the disorder before birth and medical research has not yet evolved to the point of cure. People with Marfan tend to be unusually tall, with long limbs and long, thin fingers. Marfan syndrome has various expressions ranging from mild to severe: the most serious complications are defects of the heart valves and aorta. Additionally, it may affect the lungs, eyes, dural sac surrounding the spinal cord, the skeleton, and the hard palate. This makes it very important for people with Marfan syndrome and related disorders to receive accurate, early diagnosis and treatment. Without it, they can be at risk for potentially life-threatening complications. The earlier some treatments are started, the better the outcomes are likely to be. The appropriate specialists will develop an individualized treatment program; the approach the doctor’s use depends on which systems have been affected.

Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. (Chen-Tseh Zhu, MD 2012) Marfan syndrome is caused by a defect or mutation in the gene that tells the body how to make fibrillin-1. Genetic disorders are caused by a change in genes that is either inherited, passed on from parent to child or that happens during very early development in the womb. In the case of Marfan syndrome, a defect in a gene found on chromosome 15 causes problems in the production of fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or (TGF-B). The increase in TGF-B causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorders. Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features for example, aortic enlargement expansion of the main blood vessel that carries blood away from the heart to the rest of the body and this can be life-threatening. The lungs, skin and nervous system may also be affected. Marfan syndrome does not affect intelligence.
About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups.( Arbustini E, Callegari A, Fusar-Poli P, Klersy C, Stramesi F, Politi P, 2008) About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child. People with Marfan syndrome are born with it, but features of the disorder are not always present right away. Some people have a lot of Marfan features at birth or as young children – including serious conditions like aortic enlargement. Others have fewer features when they are young and don’t develop aortic enlargement or other signs of Marfan syndrome until they are adults. Some features of Marfan syndrome, like those affecting the heart and blood vessels, bones or joints, can get worse over time. This makes it very important for people with Marfan syndrome and related disorders to receive accurate, early diagnosis and treatment. Without it, they can be at risk for potentially life-threatening complications. The earlier some treatments are started, the better the outcomes are likely to be.
There is no cure for Marfan syndrome. To develop one, scientists may have to identify and change the specific gene responsible for the disorder before birth. However, a range of treatment options can minimize and sometimes prevent complications. The appropriate specialists will develop an individualized treatment program; the approach the doctor’s use depends on which systems have been affected. Annual evaluations are important to detect any changes in the spine or sternum. This is particularly important in times of rapid growth, such as adolescence. A serious malformation not only can be disfiguring, but also can prevent the heart and lungs from functioning properly. In some cases, an orthopedic brace or surgery may be recommended to limit damage and disfigurement.
The most common symptom of Marfan syndrome is myopia nearsightedness from the increased curve of the retina due to connective tissue changes in the globe of the eye. About 60 percent of individuals who have Marfan syndrome have lens displacement from the center of the pupil ectopia lentis. Individuals who have Marfan syndrome also have an increased risk for retinal detachment, glaucoma and early cataract formation. (National Human Genome Research Institute) Early, regular eye examinations are essential for identifying and correcting any vision problems associated with Marfan syndrome. In most cases, eyeglasses or contact lenses can correct the problem, although surgery may be necessary in some cases.
In concerns to the heart and blood vessels you should see a cardiologist. A cardiologist is a physician whom specializes in the heart and cardiovascular system. Regular checkups and echocardiograms help the doctor evaluate the size of the aorta and the way the heart is working. The earlier a potential problem is identified and treated, the lower the risk of life-threatening complications. Those with heart problems are encouraged to wear a medical alert bracelet and to go to the emergency room if they experience chest, back, or abdominal pain. Some heart-valve problems can be managed with drugs such as beta-blockers, which may help decrease stress on the aorta. In other cases, surgery to replace a valve or repair the aorta may be necessary.
It is especially important that people with Marfan syndrome not smoke, as they are already at increased risk for lung damage. Many people with Marfan syndrome experience pulmonary complications, or problems with their lungs. Such as spontaneous pneumothorax, restrictive lung disease, emphysema, asthma, and sleep apnea. If you suspect that you have lung problems, you should see a pulmonologist. A pulmonologist is a doctor whom specializes in lungs. The risk for lung problems with Marfan syndrome and some related disorders is so high that everyone with these disorders should avoid or quit all forms of smoking.
Pregnancy poses a particular concern due to the stress on the body, particularly the heart. A pregnancy should be undertaken only under conditions specified by obstetricians and other specialists familiar with Marfan syndrome. (Bethesda, MD August 2012) In some cases, valve surgery prior to pregnancy may be warranted. The pregnancy should be monitored as a high-risk condition. Women with Marfan syndrome may also seek genetic counseling concerning the likelihood that they will pass the disease on to their children.
Although eating a balanced diet is important for maintaining a healthy lifestyle, no vitamin or dietary supplement has been shown to help slow, cure, or prevent Marfan syndrome. For most people with Marfan syndrome, engaging in moderate aerobic exercise is important for promoting skeletal and cardiovascular health and a sense of well-being. However, because of the risk of aortic dissection, people with the syndrome should not engage in contact sports.
As recently as 40 years ago, people with Marfan syndrome faced a virtually hopeless situation on account of chronic mitral and aortic regurgitation, heart failure, and acute and chronic aortic dissection. Life span was reduced by at least one third, with many patients succumbing in the second and third decades. Today, cardiovascular manifestations of Marfan syndrome remain among the central issues in diagnosis and management, but it is incumbent on the physicians who encounter these patients to stress the prophylactic monitoring and therapies that now can result in a nearly normal life expectancy. (Keane, Martin G.; Pyeritz, Reed E)

References
Chen-Tseh Zhu, MD U.S. National Library of Medicine Your guide to understanding your genetic conditions March 2012

Arbustini E, Callegari A, Fusar-Poli P, Klersy C, Stramesi F, , Politi P (2008)National Heart Lung and Blood Institute What Is Marfan Syndrome? https://www.nhlbi.nih.gov/health/health-topics/topics/mar/printall-index.html

National Human Genome Research Institute April 21, 2014 http://www.genome.gov/19519224

Bethesda, MD National Institute of Arthritis and Musculoskeletal and Skin Diseases Questions and Answers about Marfan Syndrome August 2012

Keane, Martin G.; Pyeritz, Reed E. 2008 Medical Management of Marfan Syndrome Circulation 117 2008 http://en.wikipedia.org/wiki/Marfan_syndrome#cite_note-46