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Marfan Syndrome

Marfan syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops.

PubMed Health Glossary
(Source: NIH - National Heart, Lung, and Blood Institute)

About Marfan Syndrome

Marfan syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops.

Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and covering of the spinal cord. Because the condition affects many parts of the body, it can cause many complications. Sometimes the complications are life threatening.

Overview

Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body's connective tissue.

Most people who have Marfan syndrome inherit it from their parents. If you have Marfan syndrome, you have a 50 percent chance of passing the altered gene to each of your children.

In about 1 in 4 cases... Read more about Marfan Syndrome

What works? Research summarized

Evidence reviews

Surgical management of aortic root disease in Marfan syndrome: a systematic review and meta-analysis

The authors concluded that valve-sparing root replacement may represent a valuable option for patients with Marfan syndrome with aortic aneurysm. The reliability of the authors' conclusions is uncertain due to review weaknesses that included potential publication bias, reviewer error and bias in data extraction, unclear quality of included studies and small study sample sizes.

[Effect of native aortic valve sparing aortic root reconstruction surgery on short- and long-term prognosis in Marfan syndrome patients: a meta-analysis]

OBJECTIVE: This meta-analysis was performed to analyze the effect of preserving the native aortic valve on short- and long-term prognosis post aortic root reconstruction surgery for patients with Marfan syndrome.

A systematic review of the pharmacological management of aortic root dilation in Marfan syndrome

BACKGROUND: Marfan syndrome causes aortic dilation leading to dissection and death. This systematic review examined the use of beta-blockers, angiotensin-converting enzyme inhibitors, and angiotensin II receptor blockers in the management of aortic dilation in this disease.

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Terms to know

Connective Tissue
Supporting tissue that surrounds other tissues and organs. Specialized connective tissue includes bone, cartilage, blood, and fat.
Fibrillin
Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue.
Genetic
Inherited; having to do with information that is passed from parents to offspring through genes in sperm and egg cells.
Glycoproteins
A protein that has sugar molecules attached to it.
Proteins
A molecule made up of amino acids. Proteins are needed for the body to function properly. They are the basis of body structures, such as skin and hair, and of other substances such as enzymes, cytokines, and antibodies.

More about Marfan Syndrome

Photo of an adult

Also called: Marfan's disease, Marfan's syndrome

Other terms to know: See all 5
Connective Tissue, Fibrillin, Genetic

Keep up with systematic reviews on Marfan Syndrome:

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