Marfan Syndrome

Introduction

Genetic/Heredity Information

Symptoms

Summary

Treatment

Key Vocabulary

Resources

Youtube Video

Many people you may know have Marfan syndrome. Most of the time it goes unnoticed as symptoms rarely show, but Marfan syndrome is dangerous. Marfan syndrome is a disorder that is able to affect the connective tissue in many parts of the body. It often causes issues in the heart, blood vessels, eyes, bones, and joints.

Marfan syndrome is an autosomal dominant inherited trait. It is a mutation in the gene FBN1. Only about ¼ people with Marfan syndrome actually show symptoms. The reason for this is unknown.

One of the main symptoms is vision problems caused by a dislocated lens in one or both eyes. The other main symptom is that it causes defects in the aorta. The aorta may weaken and will stretch which may lead to an aneurysm. This may also cause the aortic valve in someone to leak which can cause tearing in the layers of the aorta wall. One person with Marfan Syndrome is Max Lyles. Max was just an ordinary kid when in an average Friday morning soccer game he was abnormally tired. After the game he went to a local physician who figured out that Max has a heart murmur. After this discovery they figured out that he also had an enlarged ascending aorta with mild valve prolapse. He was then taken to the Cleveland Children Clinic and was diagnosed with Marfan syndrome. After hearing this he started a fund-raiser in order to help others be educated about Marfan syndrome. He donated over $600 and spent it on informative dvd’s to help educate an entire community.

From doing this project I learned that Marfan syndrome is something that is not very frequent but when it does happen that it is very dangerous. I learned that many people have it and because of that they can’t do things they wish they could. Most people with it can’t even do average sports like basketball or soccer, or they could be injured. It affects the gene FBN1 and causes the connective tissue to become very weak. Because of the connective tissue becoming weak it causes many issues in the body especially in the aorta located on the heart. Some frequently asked questions are “What is the most life threatening aspect of Marfan Syndrome?” Aneurysms are the most life threatening as it causes blinding pain that most people have never experienced. “How long can you live with Marfan Syndrome?” The average life expectancy is around 70 years. Just a little shorter than average life expectantcy. “Can you not eat anything with Marfan Syndrome?” There are no limitations for eating that Marfan Syndrome causes.

There is no cure, but doctors “treatment” is just attempting to prevent the serious complications of the disease. Most sports with lots of physical strain on lungs will be dangerous, so you should not do them. Also, you will need to regularly be check for any signs of damage that are progressing due to the disease.

Aorta- the main artery of the body, supplying oxygenated blood to the circulatory system. In humans it passes over the heart from the left ventricle and runs down in front of the backbone. Connective tissue- tissue that connects, supports, binds, or separates other tissues or organs Heart Valve- a one-way valve that normally allows blood to flow in only one direction through the heart. FBN1- The FBN1 gene provides instructions for making a large protein called fibrillin-1. The definitions are copied from the google dictionary which does not have a link. If you search something like "Aorta definition" the first definition you find was the one I used.

https://medlineplus.gov/genetics/condition/marfan-syndrome/ https://www.cdc.gov/heartdisease/marfan_syndrome.htm https://my.clevelandclinic.org/patient-stories/59-eleven-year-old-raises-money-to-donate-movies https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1513064/ https://www.nhlbi.nih.gov/health-topics/marfan-syndrome

Watch this video to get to know a little more about Marfan Syndrome. In the video Charles Bruce talks about Marfan syndrome, what it's like, what you need to look for, outward appearance of it, talks of fibrillin, and some of his experiences with marfan syndrome. Only watch the first 5 minutes of the video.