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Marfan Syndrome

While it would appear that the process of reproduction is a simple one, the mechanism by which healthy offspring develop is actually complicated.  In fact, this process may be interfered with in a number of ways.  For example, a couple may have difficulty in conceiving a child.  The child that is conceived may be exposed to various teratogens, causing the child to suffer some type of abnormality or deformity.  Another potential problem may be that a parent or parents pass a defective gene to the child resulting in a genetic disorder.  Of these numerous difficulties, individuals who have a genetic disorder are the least likely to occur.  Approximately only three to five percent of children born in the United States suffer such a condition.  Marfan SyndromeAdditionally, genetic disorders are the cause of twenty percent of the deaths of infants.  The range of possible genetic disorders is vast, and new disorders are still being identified.  The purpose of this paper is to review the information and evidence regarding one particular genetic disorder referred to as Marfan syndrome.

Basically, Marfan syndrome is a disorder that develops only in individuals with a specific genetic background.  The major symptom of the disorder is that it impacts connective tissue within the body.  Consequently, major organs of the body including the heart are affected, causing certain complications to develop.  Cardiac complications are the most common in that ninety-percent of the individuals with Marfan syndrome will develop these difficulties over the course of their lifetime.  “People with this disorder must be mindful of the stress placed on blood vessels because the expansion of the aorta can be fatal”.

Marfan syndrome is a genetic disorder that can be inherited or passed onto generations.  A parent who has Marfan syndrome has a fifty percent chance of passing the genetic disorder to his or her child .  Parents who do not have the disorder have “a 1 in 10,000 chance of having a child with Marfan syndrome.”

There is some evidence that Marfan syndrome may also be due to genetic deformity or accident rather than a defective gene that is passed from one generation to the next.  Mutations in “the fibrillin gene (FBN1) [which] encodes a 350-kD glycoprotein component of the extracellular microfibril.”  One patient with these mutations had severe manifestations of the symptoms of Marfan syndrome despite the fact that there was no familial evidence of the disorder.

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