Division of Medical Genetics

Marfan Syndrome and Related Connective Tissue Disorders Center

Reed E. Pyeritz, M.D., Ph.D., Director

This center is dedicated to the comprehensive evaluation and management of children and adults with a known or suspected diagnoses of Marfan syndrome or related conditions such as MASS phenotype, familial ectopia lentis (dislocated lenses), or familial aortic aneurysm. We provide coordinated multidisciplinary care including diagnosis, genetic testing, education, genetic counseling, management and support. Physicians participating in this center include specialists in:

• Cardiology
• Cardiovascular surgery
• Medical Genetics
• Obstetrics and gynecology
• Ophthalmology
• Orthopedics
• Radiology

All of these physicians have special experience in treating patients with Marfan syndrome and related disorders.

Visits to the Center are coordinated by the Division of Medical Genetics. Appointments can be made by calling Olga Slotiuk, the Clinic Coordinator at 215-662-4740 or through e-mail at: medgenclinic@uphs.upenn.edu

When a patient with a known or suspected heritable connective tissue disorder, or a family history of one, contacts the Center at HUP, an initial appointment will be made to be seen in the Medical Genetics Clinic. Before the appointment, someone from the Center staff will speak with the patient briefly to review the medical and family history, and discuss which medical records should be forwarded to the Center for review. These medical records might include: previous written echocardiogram reports and videotape copy of the most recent echocardiogram, written reports/films of CT or MRI scans of the chest and abdomen, records of the most recent dilated eye examination, or records of previous genetics evaluations. Release of medical record forms are usually required and will be provided by the Center.

Some procedures, such as an echocardiogram or an MRI, may be scheduled for the day of the visit to the Center. Consultations with other specialists, such as an ophthalmologist or an orthopedist may also be scheduled, based on the needs of the individual patient. It is not always possible or preferable to schedule these consultations for the same day as the visit to the Medical Genetics Clinic.

During the visit to the Medical Genetics Clinic, patients will have an opportunity to meet with a clinical geneticist (a physician who specialized in genetic disorders) and genetic counselor. They will review the medical and family history, perform a physical examination, provide education about the patient’s disorder, make recommendations for additional consultations or tests, discuss genetic testing, and provide information about which family members may also be at increased risk.

There are many different insurance companies, and a given company may offer different policies. If there are questions about whether an insurance policy will cover the cost of a visit or needed tests, we request that the patient contact the insurance company directly. Tests and visits with different specialists are billed separately. Therefore, multiple insurance authorizations may be necessary. If several individuals from the same family are to be seen, such as a parent and a child, each will be billed separately.

Following the visit to the Medical Genetics Clinic, a detailed report of the visit will be sent to the patient and to the patient’s doctor(s). This report will summarize the patient’s history, physical findings and recommendations for follow-up care.

Patients seen in the Marfan Syndrome and Related Connective Tissue Disorders Center may be eligible to participate in research studies. The University of Pennsylvania and its faculty are committed to increasing knowledge about human disease. The health professionals involved in our program have published over 100 articles in the medical literature that deal with Marfan syndrome alone. For example, we are involved in studying families in order to identify genetic changes and other risk factors that are thought to be associated with aortic dissection. We are also investigating the relationship between Marfan syndrome and attention deficit hyperactivity disorder. Participation in the various research projects involves meeting specific criteria, providing informed consent, and arranging convenient times for the study. Occasionally, tissue samples (skin, blood) and/or having special tests are required. There are no patient charges involved if studies are done as a part of a research project.

With regard to the study of the risk factors for aortic dissection, we anticipate that this research will help us to understand the cause, pathogenesis, social and psychological impact of aortic dissection and use the information to improve management, especially prevention for individuals genetically predisposed. For additional information about this study, please contact Lisa Kessler (215) 614-0936.

For more information, see the website of the National Marfan Foundation.

Recent Center publications relating to Marfan syndrome and associated connective tissue disorders:

Schwarze U, Hata R-I, McKusick VA, Shinkai H, Hoymer HE, Pyeritz RE, Byers PH. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet 2004; 74:917-30.

Jones KB, Sponseller PD, Hobbs W, Pyeritz RE. Lower limb-length discrepancy and scoliosis in Marfan syndrome. J Pediatr Orthopaed 2002; 22:807-12.

Erkula G, Jones KB, Sponseller HC, Dietz HC, Pyeritz RE. Physical growth characteristics and charts for the Marfan syndrome. Am J Med Genet 2002; 109:100-15.

Gott VL, Greene PS, Alejo DE, Cameron DE, Naftel DC, Miller DC, Gillinov AM, Laschinger JC, Pyeritz RE. Surgery for ascending aortic disease in Marfan patients: a multi-center study. N Engl J Med 1999; 340:1307-13.