Marfan Syndrome Is a Disease Caused by a Defective Gene

eye examination

Story at-a-glance -

  • Marfan syndrome is an illness that causes a variety of symptoms such as a tall, slender build, long limbs, crowded teeth and a curved spine (scoliosis)
  • These indicators are caused by a defect in the FBN1 gene, which is responsible for creating fibrillin-1, a protein that plays a large role in forming elastic fibers
  • One of the first examinations conducted by your doctor will be for your heart. This will help find out if your blood vessels have expanded, as this is where the disease usually strikes in the majority of cases

Marfan syndrome is an illness that causes a variety of symptoms such as a tall, slender build, long limbs, crowded teeth and a curved spine (scoliosis).1 These indicators are caused by a defect in the FBN1 gene, which is responsible for creating fibrillin-1, a protein that plays a large role in forming elastic fibers.2 If there is a deficiency, connective tissues throughout your body may suffer as a result.

Famous People Who Have Marfan Syndrome

Marfan syndrome affects only 1 out of every 5,000 Americans, making it a rare disease. That being said, not even celebrities are immune to the disease. Here are some famous people who have been diagnosed of Marfan syndrome:

  • Flo Hyman: A volleyball player who represented the United States in the 1986 Olympics. Unfortunately, he passed away at the age of 31 during a match because of a ruptured aorta, a hallmark complication of the disease.3
  • Isaiah Austin: This young basketball player garnered media attention when he was diagnosed with Marfan's syndrome just as he was about to join the National Basketball Association (NBA). The league's doctors were able to discover the disease by performing a routine electrocardiogram test and discovered that he had a slightly enlarged aorta, just before he turned pro.4
  • Bradford Cox: He is a musician who plays in the rock band Deerhunter, and was diagnosed with the disease early in his childhood.5 To this day, he still actively writes and performs music with his band, along with other projects.6
  • Jonathan Larson: Larson was the creator of RENT, a hit Broadway musical that ran for 12 years. Sadly, he passed away in 1996 at the age of 35 due to an aortic dissection caused by the disease.7 Since then, his family has worked closely with the Marfan Foundation to increase awareness about the condition.8

Diagnosing and Treating Marfan Syndrome

The main challenge for doctors when it comes to Marfan syndrome is the wide variety of symptoms that may develop. Since connective tissue is all around your body, it can manifest in many different ways. To help reach an accurate diagnosis, your doctor may employ any of the following:9

  • Heart tests: One of the first examinations conducted by your doctor will be for your heart. This will help find out if your blood vessels have expanded, as this is where the disease usually strikes in the majority of cases.
  • Eye exams: Your vision may suffer as a result of Marfan syndrome, because your eyes also use connective tissue for your lens, retina and other parts of the eyeballs. Slit-lamp and pressure tests will need to be conducted to determine if your eyesight has been affected.
  • Genetic testing: A variety of genetic assessments will be performed to determine if you have a defective FBN1 gene. You may also be provided counsel about your chances of passing the disease to your children should you decide to start a family in the future.

Just like diagnosing Marfan syndrome, treating the disease may employ a variety of methods. Unfortunately, there is no known cure for the disease, so treatment focuses on managing the symptoms and preventing any complications from worsening.10 You may refer to the Treatments page for a more in-depth look on what procedures may be done to help your current condition.

MORE ABOUT MARFAN SYNDROME

Marfan Syndrome: Introduction

What Is Marfan Syndrome?

Marfan Syndrome Symptoms

Marfan Syndrome Causes

Marfan Syndrome Treatment

Marfan Syndrome Prevention

Marfan Syndrome Diet

Marfan Syndrome FAQ


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