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Marfan Syndrome

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American Society of Radiologic Technologists directed reading essentialeducation CLASSICS

Marfan Syndrome

JULIE A. CHAFFINS, R.T.(R)(CT)

Marfan syndrome is a herita- After completing this article, the reader should be able to: ble disorder of the connective I Explain the genetic aspect of Marfan syndrome. tissue that affects the cardio- I Summarize the history of Marfan syndrome. vascular, skeletal and ocular I Explain how Marfan syndrome is diagnosed. systems, and often involves I Identify the clinical manifestations of Marfan syndrome. the skin, nervous system and I Discuss treatment options for different manifestations of Marfan syndrome. I lungs. Historically, a person Describe disorders that are similar to Marfan syndrome. with Marfan syndrome had a poor prognosis because of the cardiovascular effects of this elevision and newspapers Marfan syndrome is a heritable disorder disorder. The life expectancy bear witness to the effects of the connective tissue that affects mainly has improved dramatically of Marfan syndrome. When the cardiovascular system, skeletal system over the past 30 years for an athlete collapses on the and eyes. Marfan syndrome almost always individuals with Marfan court or field, death some- occurs because of a mutation in the gene syndrome because of aggres- Ttimes occurs instantaneously. This situa- (FBN1) that encodes the protein fibrillin. sive medical and molecular tion does not happen very often, but Fibrillin is a component of microfibrils, research and advances in when it does it usually makes headlines. which are present in the connective tissue surgical technology. This The question on everyone’s mind is why throughout the body. Microfibrils are uni- article discusses the history, an asymptomatic athlete suddenly dies form minuscule structures that compose genetics, manifestations, for no apparent reason. Flo Hyman, an the extracellular matrix. They form the diagnosis and treatment of Olympic volleyball star, collapsed and framework of elastic fibers in tissues such Marfan syndrome. died at a game in Japan in 1986. She was as the aorta media and the ligaments of the only 32 years old. Death occurred as a musculoskeletal system. Other microfibrils This ASRT Directed result of an aortic dissection, and an occur independent of the elastic fibers in Reading Classic was autopsy revealed that she had Marfan tissue, such as the eye filaments that hold originally published in syndrome. Sudden death related to the lens in place. Radiologic Technology, Marfan syndrome is not limited to ath- Fibrillin is one of the larger human January/February 2007, letes. Jonathan Larsen, the composer of proteins and is a major component of Vol. 78/No. 3. the acclaimed musical “Rent,” died the connective tissue. The primary purpose morning of the show’s opening night, of connective tissue is to hold the body Visit www.asrt.org/store just days before his 36th birthday. Both together and provide structure for the to purchase other ASRT Hyman and Larsen, healthy until their growth and development of the body. Directed Reading Classics. deaths, had one thing in common: an Connective tissue contributes to the aortic dissection caused by undiagnosed, function of all organs in all stages of and therefore untreated, Marfan syn- development, from childhood to old age. drome. Both deaths brought about a Thus, it is reasonable to assume that a greater public awareness of Marfan syn- defect in connective tissue production drome; however, the disease remains dif- would interfere with normal skeletal and ficult to diagnose in some patients.1 organ development, which is the case in

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Marfan syndrome. People who have Marfan syndrome are usually tall, slender and have loose-jointed arms, legs and fingers. The first noticeable characteristic of many patients with Marfan syndrome is their long arms and legs that do not seem to match their bodies. They may have scoliosis, prominence or concavity of the chest and long, narrow faces with a high palate and crowded teeth. Their digits may be hypermobile, appearing almost as if they were made from elastic. Because connective tis- sue is found throughout the body, evidence of Marfan syndrome can be found in the eyes, heart, blood vessels, lungs and nervous system.2 Signs and symptoms of Marfan syndrome can vary from person to person. In some cases, the symptoms may be mild and in others, moderate to severe. The most serious effects of the syndrome involve the cardio- vascular system. Weaknesses in the connective tissue of the aorta can potentially cause a life-threatening situa- Fig. 1. Patient with long fingers characteristic of Marfan syndrome. tion, such as an aortic dissection. (Image courtesy of the National Marfan Foundation.) Marfan syndrome is not considered a rare disorder, as it is estimated to occur in about 2 to 3 people per 10 000.3 (ectopia lentis) and mitral valve disorders. It was appar- There are more than 200 different heritable disorders of ent to Marfan by then that the disorder was genetic.3 connective tissue, and some have the same characteristics He gained international recognition for his work and as Marfan syndrome. This syndrome affects men, women was considered a pioneer of pediatric medicine in and children of all races, ethnic groups and geographic France. In 1934 Marfan received an honorary fellow- locations. Because it is an inherited condition, the greatest ship from Britain’s Royal Society of Medicine.4 As time risk factor for Marfan syndrome is having a parent with went on, physicians reported similar clinical signs in the disorder.2 their patients, and by the early part of the 20th centu- ry, Marfan’s name was linked with this condition. The History of Marfan Syndrome medical term “syndrome” was added because it means Marfan syndrome was named for French pediatri- that a group of physical signs occurs often enough to cian Antoine Bernard Jean Marfan, who was asked to create a recognizable pattern.3 evaluate a 5-year-old girl named Gabrielle in 1896.4 Her Although the disorder bears his name, Marfan was eyes, heart and intellect appeared normal at the time of not the first physician to describe these clinical signs. her visit to Dr. Marfan, but he thought her long, dispro- Approximately 20 years before Marfan’s presentation, portionate body and spider-like extremities were quite physician E. Williams described a family with similar unusual. Marfan had never seen such features and was characteristics to the American Ophthalmological so impressed by the girl’s long body and arms that he Society in July 1875. Williams’ report, titled “Rare documented her clinical signs in a medical journal, call- Cases, With Practical Remarks,” described a father ing the condition “dolichostenomelia,” which is Greek for and his 2 children whose body habitus appeared large “long, thin extremities.” (See Fig. 1.) He accompanied this and loose-jointed and displayed dislocated lenses of description with drawings of her hands and feet, using the the eyes. Unfortunately, Williams did not include pho- term “pattes d’araignée,” or “spider fingers.” Upon further tographs of these patients, and no further comments testing, skeletal radiographs of the child demonstrated about them were made. Thus, his description went possible thoracolumbar kyphoscoliosis, an anterior chest unnoticed, leaving Marfan’s discovery the memorable deformity, and pulmonary tuberculosis. one. In 1902 the condition was renamed “arachnod- Forty years after this first documented report, actyly.” This term, along with “dolichostenomelia,” is Marfan reviewed more than 150 similar cases. By that still used today by physicians when diagnosing Marfan time, other organ systems were known to be involved, syndrome.5 Complications in the aorta were described as revealed by congenital displacement of the lens in 1943, and by 1955 Victor McKusick had documented

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