Marfan Syndrome

Written & Researched by Arnav



What is Marfan Syndrome?

Marfan Syndrome is a disorder that affects how the tissues connect with the muscle to stabilize the joints. It often has an impact on the limbs, skeleton, eyes, heart, and nervous system. The syndrome is inherited from one’s parents. Previously, it was thought to cut down one’s life expectancy, but according to current research, how long you live your life remains average. [1]



What Causes Marfan Syndrome?

This syndrome has a change or mutation in a gene, specifically the FBN1 gene. The gene limits the amount of proteins required to make connective tissue. [2]



How is Marfan Syndrome Treated?

People with Marfan Syndrome must understand their physical limitations in order to preserve their joints and muscles. Being aware of your movement during physical activity helps to prevent strain on one’s joints. It can also prevent stress on the aorta, a part of the heart that carries the blood into one’s entire body. Some patients may need medications to lower blood pressure, annual check-ups to monitor their hearts, and surgery to repair heart valves, blood vessels, and joints. [1]


Symptoms of Marfan Syndrome

  1. Tall and Slender Build [3]

  2. Extreme Nearsightedness [3]

  3. Heart Murmurs [3]

  4. Flat Feet [3]

  5. An Abnormally Curved Spine [3]

  6. Crowded Teeth [3]

  7. Long Arms, Legs, and Fingers [4]

  8. Flexible Joints [4]

  9. Stretch Marks on the Skin [4]

  10. Chest That Sinks in and Sticks Out [4]

  11. Sudden Lung Collapse [4]

  12. Eye Problems [4]Complications of Marfan Syndrome



Complications of Marfan Syndrome


  • Damage to the aorta - The aorta is the artery that carries the blood from your heart to the vessel. Marfan Syndrome can damage the inner layer of the aorta, causing dissection or bleeding in the wall of the vessel. [5]

  • Mitral valve prolapse - The syndrome can result in billowing (rise and roll in surges), causing the heart to experience slow to rapid beating. [5]

  • Lens Dislocation - The lens used to focus vision moves out of place. [5]

  • Problems with your retina - A patient with Marfan Syndrome is at greater risk of detachment of the tissue primarily used to sense light [5]

  • Pregnancy complications - Since a person increases the amount of blood in their bodies during labour, the weakened aorta can cause rupture or dissection throughout pregnancy. [5]



How Common is Marfan Syndrome?


  • Men and Women both have a 50% risk of passing the gene to their children [4]

  • One of 5,000 Americans from all races and ethnic backgrounds are diagnosed with the syndrome [4]



References:

[1] Marfan Syndrome, Genetic Disorders, “healthdirect”, Marfan Association of Victoria, March 2021 [2] Marfan Syndrome, Heart Disease Resources for Health Professionals, Center for Disease Control and Prevention, December 3, 2019 [3] Marfan Syndrome, Disease and Conditions, Mayo Clinic, Rochester, Minnesota [4] “What are the Signs?”, Marfan & Related Conditions, The Marfan Foundation, Port Washington

[5] Nazario, Brulinda, Marfan Syndrome Complications, Marfan Syndrome, WebMD, August 14 2020, New York, United States

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