Marfan Syndrome

Overview

Marfan syndrome is a disorder of the connective tissue in the body. It can affect the skeletal system, blood vessels, heart, lungs, eyes and other organ systems. Marfan syndrome can be inherited from either parent, or it can result from a new change in genetic material. There is a 50-50 chance that children will inherit the disorder from their parent. Approximately 200,000 people in the United States have Marfan syndrome, and it can occur in men or women of any race or ethnic group. Many affected individuals are young adults, adolescents or children.

Diagnosis

Marfan syndrome may be difficult to diagnose and is sometimes confused with other inherited disorders. It is helpful to know if a relative or ancestor has Marfan Syndrome, especially if the patient has only one or two of the features. At Mayo Clinic, diagnosis of Marfan Syndrome involves a complete family history and genetic evaluation, physical examination, including an evaluation of the patient's heart function, eye sight and skeletal system. Read more about Marfan syndrome diagnosis.

Treatment Options

Treatment of Marfan syndrome may vary, depending on the patient's affected organ systems. Currently, a cure does not exist; but advances in medical and surgical treatments can improve prognosis and life span. Mayo Clinic in Rochester offers an integrated genetic, medical and surgical team of Mayo physicians in the Marfan Clinic to provide diagnosis and treatment for patients with Marfan syndrome. A team of medical specialists at Mayo Clinic works closely with each Marfan Syndrome patient to create a treatment plan that meets their individual needs. Genetic and reproductive counseling is also provided as part of each patient's treatment. This counseling is an important part of the management of patients and families with Marfan syndrome. Read more about Marfan syndrome treatment options.

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