Marfan Syndrome and Aortic Disorders

The Stanford University Marfan Clinic provides specialized care for Marfan syndrome and related aortic disorders.

Marfan Syndrome: Clinic Overview

The Stanford University Center for Marfan Syndrome and Aortic Disorders is the largest of its kind in California and among the nation's leading centers for the diagnosis and treatment of Marfan syndrome. At Stanford Hospital, the Marfan Syndrome center is multidisciplinary, ensuring that patients with Marfan syndrome and aortic disorders have access to comprehensive diagnostic and management services from specialists in cardiology, cardiovascular surgery, ophthalmology, orthopedics and genetics.

Marfan syndrome is a connective tissue disorder that can affect the heart, blood vessels, lungs, eyes, bones and ligaments. In Marfan syndrome, the protein necessary for strengthening the connective tissue, fibrillin 1, does not work properly, affecting the growth and development of the body. 

Approximately one in every 5,000 people worldwide is diagnosed with Marfan syndrome. That's approximately 200,000 men, women and children of every race and ethnic group in the United States.

Diagnosis and Treatment of Marfan Syndrome

A number of physical characteristics are commonly associated with Marfan, including bodies that are extremely tall and slender, usually with arms and legs that are disproportionately long compared to the torso, loose ligaments and joints, abnormal curving of the spine and chest wall abnormalities.

Approximately 90 percent of patients with Marfan syndrome experience changes in their heart or blood vessels. The most serious problem associated with Marfan syndrome is weakness of the aorta (the body's largest artery). People with Marfan syndrome often develop enlarged aortic vessels or thoracic aortic aneurysms, and without treatment, they are at risk of death from dissection or tearing of the aorta. At Stanford, we specialize in aortic root replacement surgery, including replacing the aortic valve with a mechanical valve. With aortic root replacement surgery, the aneurysm is repaired while the patient's own aortic valve is preserved. This method helps to avoid the use of long-term anticoagulant (blood-thinner) medication and may reduce the risk of stroke or endocarditis.

In approximately 50 percent of persons with Marfan syndrome, nearsightedness and cataracts are common problems, and the lens of an eye is off-center. Thanks to the multidisciplinary approach at Stanford, ophthalmologists specializing in Marfan syndrome related optic issues offer consultation and a range of treatment options.

Sometimes, Marfan syndrome is so mild that symptoms are few. A diagnosis of Marfan syndrome is made based on a thorough physical examination of various body systems and a detailed family history. In addition, our specialists may run specialized tests, including an echocardiogram of the heart and a detailed eye examination by an ophthalmologist. Aortic disorders are diagnosed thorough a physical examination and a detailed family history and with cardiac imaging that includes the latest innovations of echocardiograms (ultrasound of the heart), CT imaging (Computerized Axial Tomography) and MRIs (Magnetic Resonance Imaging).

The Stanford University Marfan Clinic provides specialized care for Marfan syndrome and Aortic disorders.

Aortic Disorders

Stanford Expertise in Marfan Syndrome

The Stanford University Center for Marfan Syndrome and Aortic Disorders brings together the Marfan syndrome specialists in treating aortic disorders to ensure every patient receives a comprehensive diagnostic review and personalized treatment plan.  In addition, our specialists provide comprehensive consultative services to referring physicians for diagnosis, as well as specialists in:

Stanford University Marfan Clinic History

The Stanford University Marfan Clinic was established in 1988 by National Marfan Foundation. The Stanford University Center for Marfan Syndrome and Aortic Disorders was the first of its kind in the western United States.

The central mission of the Stanford University Center for Marfan Syndrome and Aortic Disorders has always been to be an integrated, multi-disciplinary unit that provides comprehensive, cost-effective, state-of-the-art diagnostic evaluation and care for adult and pediatric patients with Marfan syndrome and Aortic disorders.

Research Related to Marfan Syndrome

Genetic molecular research related to Marfan syndrome and other Aortic disorders is a priority at Stanford Hospital. Pioneering work in cardiovascular surgery has been followed by expanded research and practice in all aspects of cardiac care. At the Falk Center for Cardiovascular Research and the Donald W. Reynolds Cardiovascular Clinical Research Center, clinicians and researchers are pushing the boundaries of knowledge and advancing our understanding and ability to diagnose and treat Marfan syndrome and aortic disorders.

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