Overview of Marfan Syndrome

Marfan syndrome is a connective tissue disorder. Most symptoms or complications are seen in the skeleton, eyes, and the cardiovascular system. The prevalence of Marfan syndrome is estimated to be 1 in 5000 people, of which 70-85% are hereditary. The pathogenesis of Marfan syndrome is based on a defect in a specific gene, fibrillin-1, which affects elasticity. This defect would indirectly cause a disturbance in the formation of elastic fibres. This can lead to various symptoms seen in individuals with Marfan syndrome. On this page you can learn more about Marfan syndrome with the help of a wide range of topics, from symptoms, diagnosis, and treatment to in-depth explanations of the cellular mechanisms underlying Marfan syndrome.

Introduction Video

We recommend the following video as an introduction. This should provide you with a solid foundation of further delving into the articles on this education page.
(Courtesy to Osmosis from Elsevier; 2018)


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Symptoms & Diagnosis

Let's start with the basics! Learn about the signs and diagnosis of Marfan syndrome, a genetic disorder affecting the body's connective tissues. 

Click here to explore common symptoms, how the condition is diagnosed, and the steps for managing it.

Complications & Treatment

Explore the potential complications stemming from Marfan syndrome and discover the available treatment options for effectively managing them. 

Complications

What type of complications can occur in Marfan patients?

Treatment

In occurrence of complications, what treatments are in place to help Marfan patients?

Cellular Mechanisms

Now you have a good knowledge about what Marfan is, let's dive into the cellular mechanisms that cause Marfan syndrome!

The Origin of Marfan Syndrome

Have you wondered about what actually is different in the body of a Marfan patient and how this leads to the progression of this disease?

The Elastic Marfan Cells 

What is wrong with the cells of Marfan patients and what are the consequences of this?