Marfan Syndrome

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.

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Marfan Syndrome on Wikipedia

'''Marfan syndrome''' is a connective tissue disorder, affecting many structures, including the skeleton, lungs, eyes, heart and blood vessels. It is named for the France pediatrician Antoine Marfan, who first described it in 1896. The disease is characterized by unusually long limbs.

Genetics

Marfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. FBN1 code for a protein called fibrillin, which is essential for the formation of elastic fibres found in connective tissue. Marfan's Syndrome is associated with incomplete penetrance, therefore not all persons carrying the mutation develop the disease. Without the structural support provided by fibrillin, many connective tissues are weakened, which can have severe consequences on support and stability. A related disease has been found in mouse, and it is hoped that the study of mouse fibrillin synthesis and secretion, and connective tissue formation, will further our understanding of Marfan syndrome in humans. Although genetic testing is available, a diagnosis is usually made solely on clinical findings. Most individuals with Marfan syndrome have another affected family member, but about 30% of cases are due to new mutations and they are the first in their family. Genetic counseling is available for families who may be at risk for Marfan syndrome. Estimates indicate that perhaps 1 in 10,000 people has Marfan syndrome. There is no cure, but effective treatment allows many people with the disorder to live normally. It affects all races and both sexes equally.

Symptoms

The most serious conditions associated with Marfan syndrome primarily involve the cardiovascular system. Marfan syndrome may cause leakage of the mitral or aortic heart valve that control the flow of blood through the heart. This may produce shortness of breath, an irregular pulse, and ... [ Read More ]

External Resources

AussieBillaBong - Single mothers fight with Cystic Fibrosis and Marfans syndrome, affecting one lung.

Survey for Connective Tissue Disorders - Please help us by taking these surveys and explain your experiences with Connective Tissue Disorders like: Ehlers-Danlos Syndrome, Marfan's Syndrome, Stickler Involved Syndrome, and Fibromyalgia.

Hypermobility Forum - This is a moderated discussion board for Hypermobility Syndrome, Marfan, and Ehlers-Danlos. Includes personal experiences, traditional and alternative treatment, and pain.

Hypermobility Forum - This is a moderated discussion board for Hypermobility Syndrome, Marfan, and Ehlers-Danlos. Includes personal experiences, traditional and alternative treatment, and pain management tips from fellow patients.

University College London: The Timing of Elective Aortic Root Replacement in the Marfan Syndrome - Includes a survey for study and links to useful sites.

Jeanette Navia's Marfan Life Website - Including lists of penpals and other ways to connect with the community as well as information about the Syndrome.

Life and Issues of Marfan's Syndrome - Personal site by which describes the pathology and gives a bit of advice.

American Heart Association - Marfan's Syndrome - Includes definition, problems with blood vessels and cardiac valves, treatment, lifestyle changes, and links to other heart related conditions.

International Federation of Marfan Syndrome Organizations - A global information center providing links to Organizations around the world.

eCureMe.com -- Marfan's Syndrome - Description, symptoms, diagnoses, treatment and other information with a couple of similar disorders for comparison.

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