Marfan Clinic

The Marfan Clinic provides specialized care for patients with Marfan Syndrome (MFS) and related connective tissue disorders.

Marfan Syndrome

Marfan is a connective tissue disorder that involves the ocular, skeletal, and cardiovascular systems. MFS affects about 1 in 5,000 people. It can appear at any age, although usually it starts manifesting during adolescence, and may present differently in each patient. People with Marfan are often very tall, thin, and loose-jointed. Many have heart and blood vessel issues, such as a weakness in the aorta or leaky heart valves. They also may have problems with their bones, eyes, skin, nervous system or lungs.

Causes of Marfan Syndrome

MFS affects connective tissues, the proteins that support skin, bones, blood vessels, and other organs throughout the body. One of these proteins is fibrillin, and a defect in the fibrillin gene causes Marfan syndrome. The condition is generally inherited, and about 75 percent of patients have an affected parent. In some patients, symptoms are mild; in others, they may be severe. Scientists are studying MFS to better understand this complex condition and its treatment.

Diagnosis and Treatment

Physicians may rely on observation and a patient’s medical history to diagnose MFS. They can review family medical history to see if others might have the syndrome. After a patient is clinically diagnosed, genetic testing might identify a specific mutation. Then a genetic test for the same mutation can be performed to determine if other family members are affected.

Because Marfan affects several systems, patients are often cared for by several different types of specialists. An individualized treatment plan is developed based on each patient’s condition.

Although there currently is no cure for Marfan, patients can choose from a wide range of treatment options in an effort to minimize, and sometimes prevent, complications. Depending on the patient’s condition, regular exams can include annual skeletal evaluations to identify any changes in the spine or sternum. Frequent eye exams can be performed in an effort to detect any vision problems, and heart and blood vessels may be evaluated as well.

Joe DiMaggio Children’s Hospital Marfan Clinic

Recognized by The Marfan Foundation for its commitment to high-quality, multidisciplinary care, the clinic is jointly led by Roman Yusupov, MD, from the Division of Genetics and pediatric cardiologists from the Heart Institute at Joe DiMaggio Children’s Hospital. During each visit, patients receive a comprehensive genetic and cardiology evaluation, including an echocardiogram.

Additional specialists from Joe DiMaggio Children’s Hospital and Memorial Regional Hospital, with expertise in Marfan syndrome and connective tissue disorders, are available for consultation during or shortly after the visit, including:

• Cardiovascular surgery
• Thoracic surgery
• Orthopedics