Marfan Syndrome

Marfan Syndrome is one of the examples of a genetically transmitted disease. Marfan syndrome is a disease that affects the bodys connective tissue, the fibers that support and present your organs and other structures in your body. Marfan syndrome usually affects the heart, eyes, blood vessels and skeleton. It affects both female and male and occurs among all races and ethnic groups. Connective tissue, which supports many parts of our body, is made of many kinds of protein. One of these proteins is called Fribillin, which plays an important role as the building block for connective tissue in the body. Marfan syndrome is caused by a defect or mutation in the gene that determines the structure of fribillin, which is FBN1. It affects the formation of fribillin protein in connective tissue and causes the integrity of many organs and structures in the body. People with Marfan syndrome usually pass the defective genes to their child. Marfan Syndrome affects different people in different ways. People with Marfan syndrome on their skeleton are usually very tall, thin, long arms and legs, and have loose or flexible joints because of the connective tissues problems. They also have a long, narrow face and a curved backbone. Different symptoms can be seen from the people with Marfan syndrome on their skin. They usually have stretch marks on the skin. We can also see someones having Marfan syndrome on their blood vessels if they have short breath, easily to get fatigue, and have very fast or uneven heart rate. There are so many effects on the human body or mind caused by Marfan syndrome. If it attacks our blood vessels, it will weaken the wall of the aorta and can cause a dissection in the lining of the aorta. Blood can leak out through the tear into the aortic wall and sometimes causing a rupture that allows blood to leak into the chest or abdomen. It can cause sudden death. People with Marfan syndrome should avoid putting extra work on their heart. They should avoid any sport where theres a lot of running, physical contact, muscle straining like basketball, football, and gymnastics since their connective tissues are weaker than normal. Marfan syndrome doesnt affect intelligence, but people with Marfan syndrome on their eyes will need glasses otherwise they wont be able to see anything since they have poor vision. Marfan syndrome doesnt affect the way we think, but people with Marfan syndrome usually feel uneasy because theyre different with other people. Imagine having a height about 1,8m while the others around you is less than 1,5m. You may get sick of people teasing or commenting on your height, and feel overwhelmed and stress. If you have Marfan syndrome, you arent alone. Famous people like Abraham Lincoln and Osama bin Laden also carries this syndrome too. Lincoln was 1,98 m tall at the age of 17. He also had long and bony face, also disproportionately long fingers and hands. Osama bin Laden had long, bony face, long fingers, and extremely frail body. He used a cane for walking most of the time, which further restates that he had a problem with his spinal cord, which is common with people suffering from this syndrome.

By: Tsamara Alifia Grade 11

Marfan Syndrome
References: 1. http://www.niams.nih.gov/health_info/Marfan_Syndrome/marfan_syndrome_ ff.asp#a 2. http://www.marfan.org/marfan/5732/Notable-Individuals-&-Celebrities-With-MarfanSyndrome 3. http://www.niams.nih.gov/health_info/Marfan_Syndrome/marfan_syndrome_ff.asp#a 4. http://www.marchofdimes.com/baby/birthdefects_marfan.html 5. http://www.medicinenet.com/marfan_syndrome/article.htm 6. http://www.medicinenet.com/marfan_syndrome/page3.htm#what_causes_marfan_syndro me

By: Tsamara Alifia Grade 11