Marfan syndrome is a connective tissue disorder characterized by
unusually long limbs. The disease also affects other bodily structures — including the skeleton, lungs,
eyes, heart and blood vessels — in less obvious ways. It is named
for Antoine Marfan,
the French pediatrician who first described it in 1896.Genetics
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 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].
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 percent of cases are due to genetic mutations (de novo). Genetic counseling is available for families
who may be at risk for Marfan syndrome.
Estimates indicate that perhaps 1 in 10,000 people (0.01 percent of the
population) has Marfan syndrome. There is no cure, but effective treatment
allows many people with the disorder to live normally. It affects all races and
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 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 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 symptons include;
abnormal joint flexibility, high palates, flat feet, stooped shoulders, and dislocation
of the optic lens.
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 Treatment
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 rupture a composite aortic valve and 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 dilatation reaches 50
millimeters, but each case needs to be specifically evaluated by a qualified
cardiologist. New valve-sparing surgical techniques are becoming more common.
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. Affected persons
Of famous people, it is believed to have affected Julius Caesar, Charles de Gaulle, Sergei
Rachmaninoff, Mary Queen of Scots, Abraham Lincoln, violinist Niccolò Paganini, and possibly Charles Maurice de Talleyrand. A
recent book suggested that the ancient Egyptian Pharaoh Amenhotep IV (Akhenaten) may also have had the condition. American
political columnist Ann
Coulter allegedly suffers from Marfan syndrome, and it is rumored that Osama bin Laden is
affected by the disorder as well. [3] [4]
Volleyball star Flo Hyman, a known Marfan sufferer,
and musical theater
composer Jonathan Larson, believed to have been a Marfan
sufferer, both died of aortic dissection. Another World actor Brent Collins was a dwarf with Marfan syndrome, who
eventually grew in a short spurt late in life, which led to his death. The late
character actor Vincent Schiavelli suffered from Marfan
syndrome, and was an honorary co-chairman of The National Marfan
Foundation. Related disorders
Other Useful Links
|
small "horns" or
knobs on top of their heads that grow to be about five inches long. These knobs
are used to protect the head in fights. 
and/or