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Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves.
Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. Affected individuals often are tall and lean, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds body height. Other common features include unusually flexible joints, a long and narrow face, a highly arched roof of the mouth and crowded teeth, an abnormal curvature of the spine (scoliosis), and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). About half of people with Marfan syndrome have a dislocated lens (ectopia lentis) in one or both eyes, and most have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid adulthood, and increased pressure within the eye (glaucoma) occurs more frequently than in people without Marfan syndrome.
Most people with Marfan syndrome have abnormalities of the heart and the aorta. Leaks in valves that control blood flow through the heart can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations). If leakage occurs, it usually affects the mitral valve, which is a valve between two chambers of the heart, or the aortic valve that regulates blood flow from the heart into the aorta. The first few inches of the aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). The increased size of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening.
Marfan syndrome is sometimes classified as type I or type II, although this classification system is not universally accepted. When used, type I or classic Marfan syndrome refers to the most common form of this disorder, characterized by the features described above. Type II Marfan syndrome is less common. It is similar to classic Marfan syndrome except eye problems (such as ectopia lentis) are absent, and the genetic cause is different.
Worldwide, Marfan syndrome affects at least 1 in 5,000 people.
Mutations in the FBN1 and TGFBR2 genes cause Marfan syndrome.
Mutations in the FBN1 gene cause classic Marfan syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 binds to itself and other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue. Additionally, microfibrils trap molecules called growth factors and release them at the appropriate time to control the growth and repair of tissues and organs throughout the body. A mutation in the FBN1 gene can reduce the amount and/or quality of fibrillin-1 that is available to form microfibrils. As a result, growth factors are released inappropriately, causing the characteristic features of Marfan syndrome.
Some researchers believe that a small percentage of Marfan syndrome cases are caused by mutations in the TGFBR2 gene. These cases are called Marfan syndrome type II. Other researchers believe that TGFBR2 mutations cause a disorder that may have some Marfan-like features but is not Marfan syndrome. The TGFBR2 gene provides instructions for making a protein that transmits signals from the cell surface to the nucleus. Through this signaling process, the environment outside the cell affects activities inside the cell such as division and growth. Mutations in the TGFBR2 gene alter the signaling activity of the protein, which disturbs the growth and development of connective tissue.
This condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder.
At least 25 percent of classic Marfan syndrome cases result from a new mutation in the FBN1 gene. These cases occur in people with no history of the disorder in their family.
'''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.
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.