Stanford University

Center for Marfan Syndrome

and Related Aortic Disorders 

Table of Contents

• Where is the Center physically located?
• What kind of specialties do you have at the Stanford University Center for Marfan Syndrome and Related Aortic Disorders?
• Does your Center see other patients, besides those with the Marfan syndrome?
• When does the Stanford University Center for Marfan Syndrome and Related Aortic Disorders meet?
• How is the Marfan syndrome diagnosed?
• Is there a specific laboratory test that can be done to diagnose the Marfan syndrome?
• What are typical appointments needed for a new patient evaluation?
• Do you accept self-referrals?
• Are you able to determine over the phone as to whether I should be seen?
• How can appointments through the Stanford University Center for Marfan Syndrome and Related Aortic Disorders be scheduled?
• Will my insurance cover appointments through the Stanford University Center for Marfan Syndrome and Related Aortic Disorders?
• Do you need previous medical records?
• Can you advise me regarding physical activity restrictions prior to my appointment?
• Is there research related to Marfan syndrome and related aortic disorders on going at Stanford?

Where is the Center physically located?

Stanford University Medical Center
Cardiology Clinic, 2nd Floor of Main Hospital
Stanford University Center for Marfan Syndrome and Related Aortic Disorders
300 Pasteur Drive, Room H2157, Stanford, CA 94305-5233
Phone:  (650) 725-8246
Fax:  (650) 724-4034 
E-mail:  spellone@stanfordmed.org

What kinds of specialties do you have at the Stanford University Center for Marfan  Syndrome and Related Aortic Disorders?

We are a multidisciplinary Center offering diagnostic and management services for patients with Marfan syndrome and other related aortic disorders such as Familial Aortic Disease and Bicuspid Aortic Valve Disease.  Physicians from participating specialties - cardiology, ophthalmology, orthopedics, cardiovascular surgery, genetics, etc. work together to provide consultative diagnostic and health management services for both adults and children. The Marfan Center Coordinator, Sunny Pellone, serves as a triage and information resource for physicians, staff and patients.

Does your Center see other patients, besides those with the Marfan syndrome?

Yes, we offer consultative diagnostic and follow-up services for those patients thought to have other related aortic disorders that include familial aortic disease, bicuspid aortic valve disease, aortic aneurysms and aortic dissections.

When does the Stanford University Center for Marfan  Syndrome and Related Aortic Disorders hold clinics?

Adult cardiology evaluations are done on Mondays, Wednesdays and Fridays and pediatric cardiology evaluations are done on Tuesdays. We will attempt to provide appointments with the appropriate specialists on the same day whenever possible, particularly for those who are traveling from a distance.

How are the Marfan syndrome and aortic disorders diagnosed?

Marfan syndrome is diagnosed based on a thorough physical examination of various body systems and a detailed family history. Certain tests such as an echocardiogram of the heart and a detailed eye examination by an ophthalmologist provide valuable information in the evaluation of patients for the Marfan syndrome.

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 Scans (Computerized Axial Tomography) and MRI Scans (Magnetic Resonance Imaging).

Is there a specific laboratory test that can be done to diagnose Marfan syndrome?

There is no specific diagnostic laboratory test commercially available to determine if someone has Marfan syndrome. The diagnosis is based on clinical findings and past medical history while taking into account family history.

What are typical appointments needed for a new patient evaluation?

A thorough evaluation for Marfan syndrome and related aortic disorders would include:

1. Echocardiogram with Color/Doppler and/or CT Angiogram or an MRI of the Chest and Abdomen.
   
2. An appointment with one of our Cardiologists who specializes in Marfan Syndrome and Related Aortic Disorders which includes:

• A thorough evaluation of the Stanford Echo/CT Angiogram /MRI and/or outside films the patient brings with them.
• A review of detailed medical and family history.
• An evaluation of outside medical records.
• A complete physical examination.

If any of these evaluations have been performed recently elsewhere, please bring this to our attention when scheduling your appointments with us.

Do you accept self-referrals?

Yes, at present we accept both physician and self-referrals.

Are you able to determine over the phone as to whether I should be seen?

Unfortunately, we are not in a position to diagnose anyone over the phone. If you suspect that you have the Marfan syndrome or an aortic disorder based on what you have read or on the recommendation of your physician or other affected family members, then it would be appropriate to be seen for an initial evaluation. If you already carry a diagnosis of Marfan syndrome or a diagnosis of a  known aortic disorder and wish to be seen, this is certainly appropriate.

How can appointments through the Stanford University Center for Marfan  Syndrome and Related Aortic Disorders be scheduled?

You may call the Stanford University Center for Marfan Syndrome and Related Aortic Disorders at (650) 725-8246 Monday through Friday, 8AM to 5PM, and speak to Sunny Pellone the Marfan Center Coordinator.  You may also leave a Voice Mail or an E-mail message and your inquiry will be returned as soon as possible. When scheduling, please have home and work addresses with phone numbers, Social Security numbers, birth dates, medical insurance information, referring or primary care physician address with phone numbers readily available.

Will my insurance cover appointments through the Stanford University Center for Marfan  Syndrome and Related Aortic Disorders?

There are so many different insurance companies and different policies written by a company that if you have questions about your policy, we ask that you call and speak with your insurance company directly. If you belong to an HMO or other group health care plan that requires you to get an authorization from your primary provider, please contact that individual. A written authorization from that physician authorizing each appointment and test that you will need is required before we can schedule your appointments. You can fax these to us ahead of time by dialing (650) 724-4034. Should your insurance company or primary care physician have questions regarding your appointments, they may call us for information. Please give them the (650) 725-8246 phone number.

Do you need previous Medical Records?

We encourage patients to hand-carry relevant medical records to their appointments. These medical records might include: previous written echocardiogram reports and videotape copy (recorded at normal speed) of the most recent echocardiogram, written reports/films of CT scans or MRI's of the chest and abdomen, records of most recent dilated eye examination, records of previous genetics evaluations, etc. We also ask you to fill out a Family History Questionnaire, bring photographs of various relatives, and autopsy reports if pertinent.

Can you advise me regarding physical activity restrictions prior to my appointment?

No, because we have not formally evaluated you yet. It would be presumptuous on our part and not in your best interest to either place or lift any physical restrictions imposed on you by other physicians.

Is there research related to Marfan syndrome and related aortic disorders going on at Stanford?

Yes, there is genetic molecular research going on at Stanford specific to the Marfan syndrome and other related aortic disorders..  Currently, through the use of modern research techniques and equipment designed for use in the field of molecular biology, we are involved in studying families in order to identify genetic changes that are thought to give rise to the Marfan syndrome and heritable aortic disorders such as familial aortic disease and bicuspid aortic valve disease.  We anticipate that this research will further advance our understanding and ability to diagnose and treat Marfan syndrome and aortic disorders.