Marfan Syndrome

Front

What is Marfan Syndrome?

Back

Marfan Syndrome is a genetic disorder that affects connective tissue, which supports and anchors organs and other structures in the body.

Front

How is Marfan Syndrome inherited?

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Marfan Syndrome is inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene from an affected parent can cause the disorder.

Front

What are the common symptoms of Marfan Syndrome?

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Common symptoms include tall stature, long limbs, flat feet, an abnormally curved spine, and heart murmurs.

Front

True or False: Marfan Syndrome can be cured.

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False. There is currently no cure for Marfan Syndrome.

Front

What is connective tissue?

Back

Connective tissue is a type of tissue that supports, binds together, and protects other tissues and organs in the body.

Front

What is a genetic mutation?

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A genetic mutation is a change in the sequence of DNA that can lead to genetic disorders.

Front

What role does the FBN1 gene play in Marfan Syndrome?

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The FBN1 gene provides instructions for making a protein called fibrillin-1, which is essential for the formation of elastic fibers in connective tissue.

Front

What are some cardiovascular complications associated with Marfan Syndrome?

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Cardiovascular complications can include aortic dilation, aortic regurgitation, and mitral valve prolapse.

Front

How can Marfan Syndrome be diagnosed?

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Diagnosis is typically based on a combination of physical examination, family history, and genetic testing.

Front

What is the life expectancy of someone with Marfan Syndrome?

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With proper management and treatment, individuals with Marfan Syndrome can have a near-normal life expectancy.