Center for Marfan Syndrome
and Related Aortic Disorders
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
We are a multidisciplinary Center offering diagnostic and management services for patients with Marfan syndrome and other related aordic 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.
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
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.
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
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.
A thorough evaluation for Marfan syndrome and related aortic disorders would include:
If any of these evaluations have been performed recently elsewhere, please bring this to our attention when scheduling your appointments with us.
Yes, at present we accept both physician and self-referrals.
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 ofa known aortic
disorder and wish to be
seen, this is certainly appropriate.
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.
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.
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.
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.
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.