Marfan's+syndrome

Marfan’s Syndrome


 * 1)  Marfan Syndrome is named after Antoine Marfan, the French pediatrician who first described the condition in 1896 after noticing striking features in a five-year-old girl. The gene linked to the disease was first identified by Francesco Ramirez at the Mount Sinai Medical Center in New York City in 1991.

[|Antoine Marfan] , the namesake, and discoverer of the syndrome.  2. People with Marfan's Syndrome are tall and thin with long arms, legs, fingers, and toes. Common findings in individuals with Marfan syndrome include those related to connective tissue disorders, like abnormal enlargement of the aortic root of the heart, dislocated lenses of the eyes, and a tall, lanky body with increased joint mobility, scoliosis, long flat feet, and long fingers. People with Marfan's 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's syndrome until they are adults. Without accurate, early diagnosis and treatment, they can be at risk for potentially life-threatening complications. The earlier treatments are started, the better the outcomes are likely to be. Treatments include medications to keep blood pressure low, eyeglasses or contact lenses, and surgery.

Troye Sivan, a South African/Australian singer-songwriter and part-time actor with mild Marfan’s Syndrome.  3. About 3 out of 4 people with Marfan's Syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan's 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's Syndrome will pass along the genetic mutation each time they have a child, due to the fact that the trait is autosomal dominant.

Troye Sivan is the only member of his family with the syndrome, meaning it was not genetic and was a spontaneous mutation.  4. People with Marfan's Syndrome are often treated successfully with a medication called Propranolol to prevent aortic aneurysms. This proves that the course of Marfan's Syndrome can be altered by an environmental factor because Propranolol is, in fact, an environmental factor and it has an effect on the disorder.

[|Propranolol] , the medicine used to prevent aortic aneurysms in patients with Marfan’s Syndrome.  5. Marfan’s Syndrome is one of the most common autosomal dominant inherited disorders of connective tissue. It is thought to affect approximately 1 in 5000 people worldwide, including men and women of all races and ethnic groups.



Another photo of Troye Sivan, singer/songwriter/actor and winner of 20+ music and LGBT awards.  6. A Marfan diagnosis can often be made after exams of several parts of the body by doctors experienced with connective tissue disorders, including a detailed medical and family history, including information about any family member who may have the disorder or who had an early, unexplained, heart-related death, and a complete physical examination. Other tests include Echocardiograms (looks at your heart, its valves, and the aorta), an Electrocardiogram (checks your heart rate and heart rhythm), an eye examination/a “slit lamp” evaluation (to see if the lenses in your eyes are out of place), and a few other tests and scans.

 A person with Marfan Syndrome’s hand.  <span style="background-color: #ffffff; font-family: Philosopher; font-size: 15pt; vertical-align: baseline;">7. Mutations in the FBN1 or fibrillin gene on chromosome 15 cause Marfan syndrome. More specifically, it is caused by a missense point mutation when an amino acid is wrongly coded for the fibrillin-1 protein. The misshapen protein from the mutated gene weakens the tendons, ligaments and other connective tissues in the body. Only a few reports on deletions including the whole FBN1 gene, detected by molecular cytogenetic techniques, were found in literature.



<span style="background-color: #f4cccc; color: #e06666; font-family: Philosopher; font-size: 30pt; vertical-align: baseline;"> Works cited [|https://en.wikipedia.org/wiki/Marfan_syndrome#History] [] [] [|http://www.ctds.info/fibrillin.html#environmental2] [|https://www.myvmc.com/diseases/marfans-syndrome-3/#Statistics] [] [] [] https://ghr.nlm.nih.gov/gene/FBN1#conditions