What is Marfan syndrome?

Causes and Symptoms

Studies have located the gene that causes the inherited form of Marfan syndrome. About 25 percent of Marfan syndrome cases result from spontaneous mutation. While this knowledge promises better future recognition of the condition, the range and severity of the condition is so variable that diagnosis remains difficult.

Usually, Marfan syndrome is discovered through a detailed family history. The observation that a person is tall and slender and has unusually long fingers or arms is often an early clue. The presence of loose joints with great suppleness is characteristic of the disease. Manifestations of this condition may occur in any part of the body, but the heart, eyes, and spinal column are the most common.

Treatment and Therapy

Because a variety of organs may be involved in Marfan syndrome, it is essential that several specialists form a team to evaluate and monitor the patient during his or her lifetime. The most serious, and most common, problem area is the heart. Mitral valve problems may lead to leakage or regurgitation of blood. The aortic valve can develop a backflow into the heart.

In the eyes, a characteristic sign is the dislocation of the lens. This symptom is difficult to detect and, like many others, can vary widely in intensity. Cataracts are also associated with this condition.

Other characteristics are found in the skeleton. Spinal curvature, or scoliosis, and a breastbone that either protrudes or indents are observed. Crowded teeth and an arched palate are not uncommon.

Any of these symptoms can lead to serious consequences and should be discovered as early as possible. Regular examinations by specialists in cardiology, ophthalmology, and orthopedics are essential. Most of the possible progressive aspects of the condition can be treated effectively.

Bibliography:

Alan, Rick. "Marfan Syndrome." Health Library, March 15, 2013.

Hetzer, R., P. Gehle, and J. Ennker, eds. Cardiovascular Aspects of Marfan Syndrome. New York: Springer, 1995.

"Learning about Marfan Syndrome." National Human Genome Research Institute, November 14, 2012.

"Marfan Syndrome." Genetics Home Reference, March 2012.

Parker, James N., and Philip M. Parker, eds. The Official Patient’s Sourcebook on Marfan Syndrome. San Diego, Calif.: Icon Health, 2002.

Pyeritz, Reed E., and Julia Conant. Marfan Syndrome. 5th ed. Port Washington, N.Y.: National Marfan Foundation, 2001.

Robinson, Peter N., and Maurice Godfrey, eds. Marfan Syndrome: A Primer for Clinicians and Scientists. New York: Kluwer Academic/Plenum, 2004.