What is Marfan Syndrome?

Answer 1

Marfan syndrome is a genetic connective tissue disorder characterized by unusually long limbs and fingers. The disease also affects other structures and organs — including the lungs, eyes, heart, blood vessels, dural sac surrounding the spinal cord, and hard palate — in less visible ways. It is named after Antoine Marfan, the French pediatrician who first described it in 1896.

Cause
Marfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. FBN1 codes for a protein called fibrillin-1, which is essential for the formation of elastic fibers found in connective tissue. Marfan syndrome is also an example of a dominant negative mutation. Marfan 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 mice, and the study of mouse fibrillin synthesis and secretion, and connective tissue formation, has begun to further our understanding of Marfan syndrome in humans. For instance it has been found that simply reducing the level of normal fibrillin-1 causes the Marfan related disease in mice [1].

More recently, transforming growth factor β (TGFβ) has been shown to play an important role in Marfan syndrome. Fibrillin-1 binds TGFβ, inactivating it. In Marfan syndrome, reduced levels of fibrillin-1 allow TGFβ to damage the lungs and heart. New treatments for Marfan, using antagonists of TGFβ, are being investigated (Habashi et al., 2006 Science 312(5770):117-21).

Diagnosis
Although genetic testing is available, a diagnosis is usually made solely on clinical findings. A clinical diagnosis uses specific criteria that were established in 1996.[2]


Epidemiology
Because Marfan syndrome is caused by an autosomal dominant genetic defect, each parent with the condition has a 50 percent chance of passing it on to a child. Most individuals with Marfan syndrome have another affected family member, but about 1/4 to 1/3 of all cases are due to de novo genetic mutations. Such spontaneous mutations occur in about 1 in 20,000 births. Estimates indicate that perhaps 1 in 5,000 people (0.02 percent of the population) have Marfan syndrome. It affects all races and both sexes equally.[3]


Symptoms
The most serious conditions associated with Marfan syndrome primarily involve the cardiovascular system. Marfan syndrome may cause leakage of the mitral or aortic valves that control the flow of blood through the heart. This may produce shortness of breath, an irregular pulse, and undue tiredness. Another complication is cystic medial necrosis predisposing to dissecting aortic aneurysm.

Marfan syndrome sufferers may grow to larger than normal height, and typically have long, slender limbs and fingers. Sometimes the fingers have a long, thin, spidery appearance known as arachnodactyly. In addition to affecting height and limb proportions, Marfan syndrome may produce other skeletal symptoms. Curvature of the spine (scoliosis) is a common problem, as is abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum. These symptoms may in turn cause unusual pressure on the heart and lungs. Other symptoms include; abnormal joint flexibility, high palates, small jaws, flat feet, stooped shoulders, unexplained stretch marks, and dislocation of the optic lens in the eye (ectopia lentis). Some people with Marfans have speech impediments as a result of the high palates and small jaws.

Nearsightedness or myopia is a common condition associated with Marfan syndrome. In addition, the weakening of connective tissue often causes detachment of the retina and/or displacement of the lens in one or both eyes.[4]

Dural ectasia is a major indicator of Marfan syndrome. It is a dilation of the dural sac surrounding the spinal cord. It can cause lower back and leg pain, headaches, and other neurological symptoms. It can be present without symptoms.[5]

Marfan syndrome can often be confused with Loeys-Dietz syndrome, a highly similar connective tissue disorder resulting from mutations in the TGF-beta receptor genes TGFBR1 or TGFBR2.[6]


Treatment
There is no cure for Marfan syndrome, but effective treatment allows many people with the disorder to live normally.

The heart conditions related to Marfan syndrome may not necessarily produce obvious symptoms. As a result, regular checkups by a cardiologist are needed to monitor cardiovascular health. Potential problems may be detected through echocardiography, which involves the use of ultrasound to study the heart valves and the aorta. Beta blockers have been used to control some of the complications such as aortic aneurysms. If the dilation of the aorta threatens to lead to a rupture of a composite aortic valve a graft may be implanted. Although aortic graft surgery is a serious undertaking it usually results in a good outcome and a satisfactory quality of life. Elective aortic valve/graft surgery is usually considered when aortic dilation reaches 50 millimetres, but each case needs to be specifically evaluated by a qualified cardiologist. New valve-sparing surgical techniques are becoming more common.[7] Rupture of the aorta, or aortic dissection, is the most common cause of sudden death among Marfan syndrome sufferers.

The skeletal and ocular manifestations of Marfan syndrome can also be serious, although not life-threatening. These symptoms are usually treated in the typical manner for the appropriate condition. This can also affect height, arm length, and life span.

The Nuss procedure is now being offered to people with Marfans syndrome to correct 'sunken chest' or (pectus excavatum).[8]

Clinical trials have been conducted of the drug acetazolamide in the treatment of symptoms of dural ectasia. The treatment has demonstrated significant functional improvements in sufferers of symptoms associated with this condition of Marfan syndrome.[9]

Research in laboratory mice has suggested that the angiotensin II receptor antagonist losartan (marketed by Merck & Co, Inc. as Cozaar), which appears to block TGF-beta activity, can slow or halt the formation of aortic aneurysms in Marfan syndrome.[10] A large clinical trial sponsored by the National Institutes of Health comparing the effects of losartan and atenolol on the aortas of Marfan patients is scheduled to begin in late 2006. [11]


Well known people
Below is a list of prominent figures known or believed to have had Marfan syndrome (most are according to the U.S. National Marfan Foundation):

Abraham Lincoln, 16th American President
Vincent Schiavelli, actor[12]
Jonathan Larson, Tony Award-winning playwright (Rent) - his death in 1996 of aortic dissection was covered in the media
Flo Hyman, captain, U.S. Olympic Volleyball team, 1984 (silver medalist)
Chris Patton, college basketball player (University of Maryland)
Akhenaten, Egyptian Pharaoh, who was possibly the father of King Tutankhamun
Charles de Gaulle
Sergei Rachmaninoff, composer, virtuoso pianist
Niccolò Paganini, composer, virtuoso violinist
Mary Queen of Scots
John Tavener, composer
Pauline de Rothschild, fashion designer, writer, tastemaker
Osama Bin Laden
Joey Ramone punk rock vocalist for the Ramones
Robert Johnson

Answer 2

The Marfan syndrome is a connective tissue disorder. Connective tissue provides substance and support to tendons, ligaments, blood vessel walls, cartilage, heart valves and many other structures. In the Marfan syndrome, the chemical makeup of the connective tissue isn't normal. As a result, many of these structures aren't as stiff as they should be.

The Marfan syndrome is inherited and affects many parts of the body. There's no single conclusive test for diagnosing it, but people who have it often have many similar traits. Besides perhaps having heart problems, people with the Marfan syndrome are often tall and thin. They also may have slender, tapering fingers, long arms and legs, curvature of the spine and eye problems. Sometimes the Marfan syndrome is so mild that few (if any) symptoms exist. In the most severe cases, which are rare, life-threatening problems may occur at any age.

Answer 3

Joey Ramone Marfan

Answer 4

The Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In the Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, the Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin and lungs.

Answer 5

This Site Might Help You.

RE:
What is Marfan Syndrome?

Answer 6

Famous people who have (probably) had Marfane Syndrome were President Lincoln, Akhenaten and probably Tutankhamun. Looking at their pictures and images, you can see the distinct look of a person with Marfane's.

Answer 7

Marfan syndrome is a genetic connective tissue disorder characterized by unusually long limbs and fingers. The disease also affects other structures and organs — including the lungs, eyes, heart, blood vessels, dural sac surrounding the spinal cord, and hard palate — in less visible ways. It is named after Antoine Marfan, the French pediatrician who first described it in 1896.

Answer 8

Marfan's syndrome is also called arachnodactyly. It is a rare hereditary disorder of connective-tissue development in humans that affects several body systems, most notably the skeleton, heart, and eye. Affected individuals are tall, their limbs are long and thin, their fingers are long and may be described as spider-like, and there is a tendency to double-jointedness. The lens of the eye is dislocated (a diagnostic sign), and there is a high frequency of glaucoma or retinal detachment. The heart muscle has an abnormal composition, and a variety of malfunctions and malformations occur; rupture of the aorta is the commonest cause of death.

Depending on the degree of expression of the trait, affected individuals may die at an early age or may live essentially normal lives. Although the basic abnormality of connective tissue cannot be remedied, wound healing occurs normally and surgical correction of some of the defects is practicable.

Answer 9

That's a good question!

Answer 10

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