Marfan Syndrome

Marfan syndrome involves the body's connective tissue and is characterized by abnormalities in the skeleton, heart, and eyes. It is caused by an abnormal gene * that usually is inherited. People with Marfan syndrome are generally taller than average, have little body fat, and have long, thin fingers.

What Is Marfan Syndrome?

Marfan syndrome was first described in 1896 by the French physician Antoine Marfan (1858–1942). Some famous people of the past, such as violinist Niccolo Paganini, who had very long fingers, and Egyptian King Tutankhamen, are believed by some to have had Marfan syndrome. In the early 2000s, the disorder received attention in the media as a result of health problems and deaths among celebrities such as Joey Ramone from the punk rock band The Ramones and Jonathan Larson, author and composer of the hit musical Rent. Still, the disorder is rare.

Marfan syndrome affects only about 1 to 2 people of every 10,000. In the United States, it has been estimated that between 60,000 and 200,000 people have the disorder. It affects men and women in equal numbers, as well as people of all racial and ethnic groups. Marfan syndrome can affect the heart and aorta * , the eyes, and the skeleton.

What Causes Marfan Syndrome?

For many years, it was known that Marfan syndrome is inherited. It was observed that if someone had the disorder, each of his or her children would have about a 50 percent chance of developing it as well. However, it was not known what gene or genes were responsible for the disorder.




Five clinical signs of Marfan syndrome (left to right): pectus excavatum, positive thumb sign, positive elbow sign, normal spine compared with scoliosis, normal anatomy compared with kyphosis.





Five clinical signs of Marfan syndrome (left to right): pectus excavatum, positive thumb sign, positive elbow sign, normal spine compared with scoliosis, normal anatomy compared with kyphosis.
Illustration by Frank Forney. © 2016 Cengage Learning®.

Although anyone born to a parent with Marfan syndrome has a 50-50 chance of inheriting the disorder, an estimated 25 percent of people with Marfan syndrome do not have a parent who has it, because a person can have the defective gene due to a spontaneous mutation, or change, in the normal gene.

What Are the Signs and Symptoms of Marfan Syndrome?

The characteristic signs and symptoms of Marfan syndrome usually do not begin to become apparent until a person is 10 years of age. When they do emerge, they may involve any or all of three parts of the body: the skeleton, the circulatory system (heart and blood vessels), and the eyes.

Skeleton

A person who has Marfan syndrome usually (but not always) grows to be very tall and thin. The fingers also tend to be long and thin, or “spidery.” The head is sometimes elongated too, and the chest may have a caved-in look. The joints tend to be supple and loose and are prone to becoming dislocated. There may be scoliosis (sko-lee-O-sis), a side-to-side curvature of the spine.

Circulatory system

The most serious features of Marfan syndrome involve the heart and aorta, the main artery that carries blood directly from the heart to the body. A characteristic defect in one of the valves of the heart (mitral valve) can cause irregular heart rhythm. Weakness in the aorta can allow it to widen, eventually leading to the development of an aneurysm (AN-you-rizm), a bulge in the wall of a blood vessel. If untreated, the weak spot in the aorta can rupture, causing severe internal hemorrhage and death, without warning.

Eyes

A common symptom of Marfan syndrome is myopia (my-O-peeuh), or nearsightedness. In addition, detachment of the retina and early-onset glaucoma * have been described as complications of Marfan syndrome.

How Is Marfan Syndrome Diagnosed?

Marfan syndrome can be difficult to diagnose. As of 2015, no single laboratory test could identify it. Some people with the condition do not have all of its characteristic signs. Conversely, most people who are tall, lanky, and nearsighted do not have Marfan syndrome. (Again, the disorder is rare.)

Accurate diagnosis is made from a combination of one's family history and a complete physical examination that focuses on the skeleton, heart and aorta, and eyes. An echocardiogram (eh-ko-KAR-dee-uh-gram), a picture of the heart produced by using sound waves, can detect abnormalities in the heart and aorta. Eye doctors can look for possible lens dislocations.

How Is Marfan Syndrome Treated and Prevented?

In terms of lifestyle, strenuous sports may have to be avoided to reduce the risk of damage to the aorta. Genetic counseling is advisable for anyone thinking about having children because of the risk that children will inherit the condition. Although there is no cure for Marfan syndrome, working closely with one's doctor in an ongoing monitoring and treatment program can greatly improve the outlook for long life.

See also Aneurysm • Cataracts • Detached Retina • Eye Disorders: Overview • Genetic Diseases: Overview • Glaucoma • Nearsightedness • Scoliosis

Resources

Books and Articles

Child, Anne H. (ed.). Diagnosis and Management of Marfan Syndrome. New York: Springer, 2016.

Inna, Prashanth. “Marfan Syndrome.” Medscape, June 17, 2014. http://emedicine.medscape.com/article/1258926-overview (accessed October 26, 2015).

Kolata, Gina. “Learning to Defuse the Aorta.” The New York Times. December 2, 20130. http://www.nytimes.com/2013/12/03/science/learning-to-defuse-the-aorta.html?pagewanted=1&_r=2&pagewanted=all (accessed November 18, 2015).

Summers, Kim M., Jennifer A. West, Annette Hattam, Denis Stark, James J. McGill, and Malcolm J. West. “Recent Developments in the Diagnosis of Marfan Syndrome and Related Disorders.” The Medical Journal of Australia, 197, 9 (2012): 494–97. https://www.mja.com.au/journal/2012/197/9/recent-developments-diagnosis-marfansyndrome-and-related-disorders (accessed November 18, 2015).

Websites

Genetics Home Reference. “Marfan Syndrome.” U.S. National Library of Medicine, National Institutes of Health. http://ghr.nlm.nih.gov/condition/marfan-syndrome (accessed March 5, 2016).

Merck Manual, Consumer Version. “Marfan Syndrome.” http://www.merckmanuals.com/home/children-s-health-issues/hereditaryconnective-tissue-disorders/marfan-syndrome (accessed March 5, 2016).

National Organization for Rare Disorders. “Marfan Syndrome.” https://rarediseases.org/rare-diseases/marfan-syndrome/ (accessed March 5, 2016).

Organizations

National Institute of Arthritis and Musculoskeletal and Skin Diseases. 1 AMS Circle, Bethesda, MD 20892. Toll-free: 877-226-4267. Website: http://www.niams.nih.gov (accessed March 5, 2016).

National Marfan Foundation. 22 Manhasset Ave., Port Washington, NY 11050. Toll-free: 800-862-7326. Website: http://www.marfan.org (accessed March 5, 2016).

National Organization for Rare Disorders. 55 Kenosia Ave., Danbury, CT 06810. Telephone: 203-744-0100. Website: http://rarediseases.org (accessed March 5, 2016).

* genes (JEENS) are chemical structures composed of deoxyribonucleic acid (DNA) that help determine a person's body structure and physical characteristics such as hair or eye color. Inherited from a person's parents, genes are contained in the chromosomes found in the body's cells.

* aorta (ay-OR-ta) is the major large artery that carries blood from the heart to the rest of the body.

* glaucoma is a group of disorders that cause pressure to build in the eye, which may result in vision loss.

Disclaimer:   This information is not a tool for self-diagnosis or a substitute for professional care.

(MLA 8th Edition)