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• Diagnosis and Tests

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Summary

Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome.

Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs.

There is no specific test for Marfan syndrome. Your doctor may use your medical history, family history, and a physical exam to diagnose it. Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies.

NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

Start Here

• Learning about Marfan Syndrome (National Human Genome Research Institute)
• Marfan Syndrome (National Heart, Lung, and Blood Institute)
• What Is Marfan Syndrome? (National Institute of Arthritis and Musculoskeletal and Skin Diseases) Also in Spanish

Diagnosis and Tests

• Getting Diagnosed (Marfan Foundation)

Related Issues

• Beals Syndrome (Marfan Foundation)
• Emergencies (Marfan Foundation)
• Loeys-Dietz Syndrome (Marfan Foundation)
• What Are Related Conditions? (Marfan Foundation)

Specifics

• Heart and Blood Vessels in Marfan Syndrome (Marfan Foundation) - PDF

Genetics

• Marfan syndrome: MedlinePlus Genetics (National Library of Medicine)

Clinical Trials

• ClinicalTrials.gov: Marfan Syndrome (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

• Article: Oral health and oral health-related quality of life in people with...
• Article: Clinical and Phenotypic Correlates of Mitral Valve Prolapse in Marfan Syndrome:...
• Article: The clinical relevance of the decelerating effect of angiotensin receptor blockers...
• Marfan Syndrome -- see more articles

Find an Expert

• Find a Genetic Counselor (National Society of Genetic Counselors) Also in Spanish
• National Institute of Arthritis and Musculoskeletal and Skin Diseases Also in Spanish

Children

• Marfan Syndrome (For Parents) (Nemours Foundation) Also in Spanish

Patient Handouts

• Marfan syndrome (Medical Encyclopedia) Also in Spanish