Marfan syndrome

Overview

What is Marfan syndrome?

Marfan syndrome is a genetic disorder of the body's connective tissue. Connective tissue gives strength and flexibility to many of the body's structures including bones, ligaments, muscles, blood vessels, and the heart. Accordingly, the organ systems that are most often impacted in Marfan syndrome are the heart, the skeletal system, and the eyes. Marfan syndrome can also affect the skin and lungs. An additional characteristic of Marfan syndrome is swelling of the membrane that surrounds the brain and spinal cord (dural ectasia) that may cause lower back and leg pain, abdominal pain, and headaches. Although many parts of the body are made of connective tissue, the severity and onset of symptoms of Marfan syndrome varies widely from one individual to another.

References
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Are there other names for Marfan syndrome?

How common is Marfan syndrome?

What is the biggest health concern for someone with Marfan syndrome?

What type of disorder is Marfan syndrome?

Is Marfan syndrome more common in people from certain countries?

Are there other names for Marfan syndrome?

Marfan syndrome is sometimes abbreviated as MFS, but is most often referred to by its full name.

References
How common is Marfan syndrome?

Around 1 in 5,000 to 1 in 10,000 individuals worldwide have Marfan syndrome.

References
What is the biggest health concern for someone with Marfan syndrome?

Heart issues are generally the most serious problems for people with Marfan syndrome such as enlarged or bulging aorta (aortic aneurysm), separation the aorta's layers that can cause it to tear (aortic dissection), and mitral valve issues. They are the most common cause of early death for patients with Marfan syndrome. With proper medical management, the life expectancy for a person with Marfan syndrome is close to that of the general population.

References
What type of disorder is Marfan syndrome?

Marfan syndrome is a connective tissue disorder. Because connective tissue is found throughout the body, Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. Marfan syndrome also may cause swelling of the membrane that surrounds the brain and spinal cord leading to lower back and leg pain, abdominal pain, and headaches. People with Marfan syndrome are also at a higher risk for breathing problems, such as shortness of breath caused by differences in the formation of the spine and breastbone.

References
Is Marfan syndrome more common in people from certain countries?

Marfan syndrome is panethnic in that it appears in people all around the world and can be found in individuals from all ethnic and racial backgrounds. Having said this, there is one genetic mutation in the FBN1 gene that is seen more often in the Netherlands.

References
  • Dietz, H. (2017, October 12). Marfan Syndrome. Retrieved from http://www.ncbi.nlm.nih.gov/books/NBK1335/
  • Aalberts, Jan & Schuurman, A & Pals, Gerard & Hamel, Ben & Bosman, G & Hilhorst-Hofstee, Y & Barge, Daniela & Mulder, B & Berg, M & Tintelen, J. Peter. (2010). Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation. Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation. 18. 85-9. 10.1007/978-90-368-0705-0_12.

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