The term, Marfan, originated from a French doctor by the name of Antonin B. J. Marfan who discovered the disorder in 1896. He identified the symptoms in a 5 year old girl named Gabrielle, so they called the disorder after him.Marfan syndrome is a genetic disorder that causes problems to the connective tissues in the human body.
It is caused by a mutation in the chromosome 15 on the FBN1 gene. The FBN1 gene provides a protein Fibrillin-1 that gives the body strength. The arrow is pointing to 15q21.1 gene. Marfan syndrome affects 1 in 5,000 people from every sex, race, ethnicity and age. 80 percent of people who are diagnosed with Marfan syndrome inherit it from their parents, the other 20 percent have the disorder because of a defected FBN1 gene. If one parent has Marfan syndrome there is a 50 percent chance your baby will have it. There is about a 1 out of 4 chance that your baby could possibly develop the syndrome in the womb.
Unfortunately, people who have Marfan syndrome are born with the disorder but not all are diagnosed at birth. Depending on the severity of the disorder, depends on how soon one can be diagnosed. Marfan syndrome is a difficult disorder to diagnose, so family medical history is needed to help doctors with diagnosis. Additional tests such as complete physical exams, chest x-rays, genetic testing, Echocardiogram (heart test), Electrocardiogram (EKG) and eye exams are also necessary to help be diagnosed. The Echocardiogram (heart test) is a test performed using sound waves to take pictures of the heart and arteries to see if there are any problems caused by Marfan syndrome.
Doctors also use Electrocardiogram (EKG) to test the vibration waves and activity of the heart to see if it is functioning correctly. These tests are necessary to help monitor the heart and to see what impact the disorder has on this important organ. Some of the characteristics of Marfan syndrome are very noticeable but others are not.
This disorder causes people to have a thin, long body structure, long fingers, arms, legs, toes, curved spine and a sunken chest or a chest that sticks out. More serious symptoms of Marfan syndrome are heart problems, the lungs to collapse and the eyes to get glaucoma or cataracts early. Marfan syndrome can damage the artery in the heart that carries blood to the rest of the body.
It makes the inner layers of the artery thin so it’s hard for the blood to travel to the rest of the body without tearing it up. Marfan syndrome is also the cause of damage to the eye nerves that can cause blindness. When someone gets glaucoma, it is irreversible and only gets worse, so it is important to get checked often so it doesn’t go unnoticed for too long. There is no cure found for Marfan syndrome but doctors can give you treatment to help control the disorder and its complications. They can also prescribe some medication to help relieve some of the pain that is caused by the disorder.
It is important to see a doctor regularly to monitor the progress of the disorder. If you don’t treat Marfan syndrome by seeing a doctor regularly, it can be fatal and lead to a short life span. People with Marfan syndrome can still live a long, normal, and happy life if you get the right treatment. A great example of someone diagnosed of Marfan syndrome is a former Baylor Bear basketball star, Isaiah Austin. Austin was diagnosed in 2014 when he underwent a physical when he thought he was going to be selected into the 2014 NBA draft. During the physical, a electrocardiogram showed that his heart beats were irregular.
Since being diagnosed, he gets check-ups regularly and has recently been released to continue to play basketball.