Marfan Syndrome Research Paper
Marfan Syndrome is caused by a genetic mutation. Marfan can be passed on from parents or can occur spontaneously. The disorder happens in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength. The mutation results in an increase in a protein called transforming growth factor beta, or TGF-B. The increase causes the problems in the connective tissues of the body.
Marfan Syndrome is an autosomal recessive disorder. An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.
Marfan disorder was first discovered by Antoine Marfan. He was a French doctor in 1896 that discovered the disease through a five-year-old girl who he described as having …show more content…
arachnodacytyly. It almost took fifty years to fully figure out the disease, including aneurysm of the ascending aorta, which is a common complication. Fifty years later, in 1968, he did a procedure which resulted poorly because it was before the Bentall composite graft. (What does this mean?)
Marfan Syndrome happens in about 1 in 5,000 people.
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.
Features of the disorder are not always present right away. Marfan features at birth or as young children can include 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.
The phenotype is the physical appearance of somebody who has the disorder. People with Marfan syndrome have long arms, legs and fingers, tall and thin body type, curved spine, chest sinks in or sticks out, flexible joints, flat feet, crowded teeth, and stretch marks on the skin that are not related to weight gain or loss. Marfan syndrome can affect many parts of the body, and each person is affected differently. This is called variable
expression.
Medical treatments for Marfan Syndrome include getting checked frequently for signs of progression of the disease. Doctors prescribe blood pressure lowering medicine to reduce aortic valve size. Losartan is a newer blood pressure medication for protecting the aorta; beta-blockers and ascending aortic root aneurysm procedure. This procedure is used when the diameter of the aorta has grown quickly or reaches 2 inches or 5 centimeters. The operation puts in a new portion of your aorta with a tube made of synthetic material. For scoliosis treatments, doctors recommend a custom-made back brace worn throughout the growing process of the child. Although the Marfan Syndrome is unavoidable if diagnosed, there are preemptive measures for genetic counseling available to predict if somebody's going to have it. Working with a geneticist is necessary for mutations in fibrillin-1 (FBN1), and other genes have become an important and reliable option to aid in the diagnosis of Marfan syndrome and related disorders. A team of doctors must follow kids with Marfan syndrome closely. Because kids' bodies grow and change so quickly, most kids will need echocardiograms about once a year, plus frequent eye and bone exams. This helps doctors stay on top of any new problems. Doctors might also prescribe special medicines called beta-blockers and ARBs, which help the heart not to pump so hard and cause less wear and tear on the blood vessels. Kids who are nearsighted or kids with amblyopia or strabismus will probably need to wear glasses. And kids who develop scoliosis may have to wear a special back brace. Sometimes, kids may need to have surgery on their heart, eyes, back, or chest bones, depending on how severe problems become.
Works cited
(You need to cite the mayo clinic article as lots of this material came directly from that website!) "Marfan Syndrome." Marfan Syndrome. Nina Powell-Hamilton, MD, Nov. 2014. Web. 23 Mar. 2016. . "Marfan & Related Disorders." Marfan & Related Disorders. N.p., n.d. Web. 23 Mar. 2016. .
Marfan Syndrome is an autosomal recessive disorder. An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.
Marfan disorder was first discovered by Antoine Marfan. He was a French doctor in 1896 that discovered the disease through a five-year-old girl who he described as having …show more content…
arachnodacytyly. It almost took fifty years to fully figure out the disease, including aneurysm of the ascending aorta, which is a common complication. Fifty years later, in 1968, he did a procedure which resulted poorly because it was before the Bentall composite graft. (What does this mean?)
Marfan Syndrome happens in about 1 in 5,000 people.
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.
Features of the disorder are not always present right away. Marfan features at birth or as young children can include 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.
The phenotype is the physical appearance of somebody who has the disorder. People with Marfan syndrome have long arms, legs and fingers, tall and thin body type, curved spine, chest sinks in or sticks out, flexible joints, flat feet, crowded teeth, and stretch marks on the skin that are not related to weight gain or loss. Marfan syndrome can affect many parts of the body, and each person is affected differently. This is called variable
expression.
Medical treatments for Marfan Syndrome include getting checked frequently for signs of progression of the disease. Doctors prescribe blood pressure lowering medicine to reduce aortic valve size. Losartan is a newer blood pressure medication for protecting the aorta; beta-blockers and ascending aortic root aneurysm procedure. This procedure is used when the diameter of the aorta has grown quickly or reaches 2 inches or 5 centimeters. The operation puts in a new portion of your aorta with a tube made of synthetic material. For scoliosis treatments, doctors recommend a custom-made back brace worn throughout the growing process of the child. Although the Marfan Syndrome is unavoidable if diagnosed, there are preemptive measures for genetic counseling available to predict if somebody's going to have it. Working with a geneticist is necessary for mutations in fibrillin-1 (FBN1), and other genes have become an important and reliable option to aid in the diagnosis of Marfan syndrome and related disorders. A team of doctors must follow kids with Marfan syndrome closely. Because kids' bodies grow and change so quickly, most kids will need echocardiograms about once a year, plus frequent eye and bone exams. This helps doctors stay on top of any new problems. Doctors might also prescribe special medicines called beta-blockers and ARBs, which help the heart not to pump so hard and cause less wear and tear on the blood vessels. Kids who are nearsighted or kids with amblyopia or strabismus will probably need to wear glasses. And kids who develop scoliosis may have to wear a special back brace. Sometimes, kids may need to have surgery on their heart, eyes, back, or chest bones, depending on how severe problems become.
Works cited
(You need to cite the mayo clinic article as lots of this material came directly from that website!) "Marfan Syndrome." Marfan Syndrome. Nina Powell-Hamilton, MD, Nov. 2014. Web. 23 Mar. 2016. . "Marfan & Related Disorders." Marfan & Related Disorders. N.p., n.d. Web. 23 Mar. 2016. .