Marfan Syndrome

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Last updated 6 years ago

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Marfan Syndrome

MarfanSyndrome

Description

Diagnosis

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Symptoms

Prognosis

The disease itself is not curable, and not likely to be cured in the near future. Instead, those who are affected can take numerous precautions in order to prevent many of the health problems associated with the disease. The prognosis for Marfan Syndrome can vary depending on the amount of treatment and lifestyle management the affected individual is willing to undergo. Due to the large number of medical issues that can arise due to the condition, untreated persons may live to only 45. However, life expectancy can be normalized (5)

Marfan Syndrome (also known as MFS) owes its namesake to a French pediatrician by the name Antoine Bernard-Jean Marfan. It is possible that his first encounter with the an affected patient was in 1896, and continued to study the disease until well into the 1900s (1).The condition itself is a genetic disorder that affects the FBN1 gene. When the amino acids of this gene are altered, the mutation results in abnormal or reduced production of fibrillin, an important protein in connective tissue. Resulting effects can be seen in the skeletal, cardiovascular, respiratory, nervous, and integumentary systems (2).

An individual is diagnosed with Marfan Syndrome after numerous physical examinations. These include echocardiograms and electrocardiograms to observe heart function, as well as slit-lamp eye examinations, MRIs and CT scans. Family history is also considered. The results of these tests are compared to a set of guidelines called Ghent criteria for an official diagnosis (3).

The gene responsible for Marfan Syndrome is located on chromosome 15 and is dominant, thus only one copy of the mutated gene is required for its expression. Apoproximately 75% of those who are affected by the disorder inherited the disease from a parent, with the remaining 25% representing spontaneous gene defection in the individual. Affected persons have a 50% chance of passing it on to their children (6).

Inheritance

Marfan Syndrome primarily affects production of the body's connective tissue, resulting in a tall, lanky build. This is emphasized by extended arm and appendage length. Scoliosis is very common in those with the disease, as are flat feet and 'crowded' teeth. The chest may also be indented or protruding, known as pectus excavatum and pectus carinatum, respectively.Other associated medical issues include a small lower jaw, a high arched palate, deep set eyes, spondylolisthesis, dural ectasia, myopia, premature cataracts, risk of aortic aneurysm, and stretch marks (4).

Fun Facts

An individual is diagnosed with Marfan Syndrome after numerous physical examinations. These include echocardiograms and electrocardiograms to observe heart function, as well as slit-lamp eye examinations, MRIs and CT scans. Family history is also considered. The results of these tests are compared to a set of guidelines called Ghent criteria for an official diagnosis.


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