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What is Marfan Syndrome

By at October 7, 2012 | 9:14 am | Print

Marfan Syndrome is a genetic disorder in which a person’s connective tissue fails to develop properly because it inhibits the production of a protein necessary for connective tissue to develop, without this protein, connective tissue is less elastic than it normally should be, which makes it weaker than it would be on a person without the disorder. The diseased gene can be found in both males and females, and passing on the disorder to one’s child only requires one parent to be carrying the affected gene.

People who have this disorder can have symptoms that range from very mild to life threatening depending on the severity of the connective tissue degradation. One of the most common symptoms of Marfan Syndrome is having above average height. The persons frame tends to be very slim. The extra growth also manifests itself in patients having abnormally long fingers and toes. Another of the more common symptoms is an abnormal crowding of teeth, which tends to require braces to correct. The condition can also cause curvature in the spine, which if left untreated can lead to a wide variety of back problems if it’s not treated early on with a corrective brace.

Although these symptoms are very mild, Marfan Syndrome can also cause very damaging effects on the connective tissue found in the heart which can lead to a multitude of problems such as an enlarged aortic root, or a weakening of the valve tissues that can lead to tearing. It is common for Marfan patients to need to undergo valve replacement surgeries because of the damage it can cause. The weakening of the connective tissue also commonly causes Marfan patients to develop extreme nearsightedness and to develop glaucoma, and cataracts later in life. The eyes may also weaken to the point that patients may experience dislocation and detachment of their retinas and lenses. Another symptom of Marfan Syndrome is a malformed or protruding breastbone, which can lead to complications in breathing such as emphysema, and difficulty breathing during moderate to heavy physical activity. Despite all of these complications Marfan Syndrome is an manageable disease which does not necessarily have to cause a decrease in a patient’s quality of life. If a patient is diagnosed with the syndrome during childhood many of the aspects of the disease that affect one’s appearance can be greatly reduced, this is usually done through spinal braces and orthodontics.

Although Marfan syndrome affects both men and women, women with the syndrome face an additional set of risks in dealing with the disease.  Marfan Syndrome patients who become pregnant run the risk of their aortas increasing in size rapidly, which can cause them to rupture resulting in life threatening complications. According to the Mayo Clinic, the risk of an “aortic dissection or rupture” during pregnancy is usually fairly low, however it is highly recommended that women undergo thorough examination before and during the pregnancy process. Despite these complications, it is common for Marfan patients to carry pregnancies to term safely and to have safe, healthy deliveries.

Being diagnosed with Marfan Syndrome may be a frightening thing, but the disease can be managed, and the majority of those with the syndrome lead happy and healthy lives. The only difference being that those with the syndrome need to take extra precautions when it comes to their health, such as getting regular examinations in order to quickly respond to and treat any symptoms that may arise.

 

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  1. […] Marfan Syndrome is a genetic disorder that affects the person’s connective tissue.  The connective tissue holds organs in place and attach skin to bones and provide support to blood vessels. The gene that is inherited in this syndrome is the fibrillin gene. This protein makes connective tissue elastic and strong so organs can move around be still be anchored. This syndrome can effect critical body functions including the eyes, heart, blood vessels and skeleton. The major concern in this syndrome is the effect it has on the heart. It causes a weak aorta and leaky heart valves. This can cause problems in getting blood to crucial areas of the body. […]

  2. […] Marfan Syndrome is a genetic disorder that affects the person’s connective tissue.  The connective tissue holds organs in place and attach skin to bones and provide support to blood vessels. The gene that is inherited in this syndrome is the fibrillin gene. This protein makes connective tissue elastic and strong so organs can move around be still be anchored. This syndrome can effect critical body functions including the eyes, heart, blood vessels and skeleton. The major concern in this syndrome is the effect it has on the heart. It causes a weak aorta and leaky heart valves. This can cause problems in getting blood to crucial areas of the body. […]


  1. marfan syndrome mortality, 3 years ago Reply

    It’s believed to affect 1 in 5,000 people and its most noticeable characteristics are a tall, thin physique.
    In others, like in the case of an aortic dissection that was not caught soon enough, the outcome might be fatal.

    Unfortunately, heart disease is still among the top 3 killers in the United States.


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