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Marfan syndrome


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

Contents

Genetics

Marfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. FBN1 encodes 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 mice, 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 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. Due to the spidery appearance of the fingers, Marfan syndrome has also been 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 cornea.

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 nickel-titanium stent may be inserted. 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 Nicolo Paganini, and possibly Charles Maurice de Talleyrand. A recent book suggested that the Egyptian Pharoah Amenhotep IV/Akhenaten may also have had the condition. Osama bin Laden is also rumored to have Marfan syndrome. [1] [2]

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.

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