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The Medical Genetics Institute at Cedars-Sinai provides diagnosis and coordination of care for person with any hereditary connective tissue disorder. A connective tissue disorder is one that involves defects in the supporting structures of the body, such as skin, bone, cartilage, ligaments, blood vessels and organ coverings. When these tissues are weakened by mutant genes, diagnosis and medical or surgical treatment can be of great benefit.
Common genetic tissue disorders include Marfan syndrome, osteogenesis imperfecta (brittle bone disease), and Ehlers-Danlos syndrome. an early diagnosis is key so appropriate management can be initiated early. Possible associated problems with the eyes (lens dislocation), heart (mitral valve prolapse or aortic dilatation) and other parts of the body (joint laxity or dislocation) can sometimes be avoided or severity lessened with early diagnosis and a tailored medical management plan. Our genetic team consists of medical geneticists, genetics counselors, social workers, and nurses. We provide referrals to the appropriate patient foundations, support and education groups, and clinical trial research opportunities.
The Medical Genetics Institute also hosts a specialized Marfan Syndrome Center which takes a comprehensive approach to diagnosing the disorder and to provide ongoing care for affected individuals by highly trained specialists from multiple disciplines - all of whom are familiar with Marfan syndrome (see information below). The Marfan Syndrome Center is also an official study site for the losartan vs atenolol clinical trial (see informaiton below).
To schedule an appointment with our Connective Tissue Disease clinic or our Marfan Syndrome Center, please call 310-423-9914.
Marfan Syndrome Center Team
Coordinator & Genetic Counselor: Mitchel Pariani, MS
For a formal clinical evaluation of Marfan syndrome and all other connective tissue disorders:
Genetic Counselor: Mitchel Pariani, MS
Medical Genetics Institute
For cardiac screening for Marfan syndrome and connective tissue disorder related issues.
To schedule a pediatric echocardiogram at Cedars-Sinai please call the Pediatric Cardiology Department at 310-423-2771.
To schedule an adult echocardiogram at the Cedars-Sinai Heart Institute please call 310-423-2726
To schedule a consult with a Marfan Center cardiologist please contact:
David Ferry, MD
Encino Heart Center
Schedule an appointment
Robert Sigel, MD
Cedars-Sinai Heart Institute
Call 310-423-3849 to schedule an appointment
For ocular screening and treatment options for issues related to Marfan syndrome and connective tissue disorders.
Ken Wright, MD
Wright Eye Care
Schedule an appointment
For management of symptoms such as back pain, scoliosis, and feet issues of connective tissue disorders. Please call 310-423-5224 to schedule an appointment
Robert M. Bernstein, MD
Cedars-Sinai Orthopaedic Center
For those who need pectus bar placement and for those seeking surgical repair of cardiovascular features of connective tissue disorders.
Cedars-Sinai Pediatric Surgical Services
Please call 310-423-2331 to schedule an appointment
Alfredo Trento, MD
Please call 310-423-3851 to schedule an appointment
Losartan Clinical Trial
Cedars-Sinai's Medical Genetics Institute and Heart Center are proud to announce that we have been selected as a center for the national losartan-atenolol clinical trial for patients with Marfan Syndrome. If you would like to find out more information about the trial, or if you would like to refer a patient, please contact the study coordinator Mitchel Pariani (see contact information below). You may find additional information about the trial from the official study website at the Pediatric Heart Network.
If you are a physician and would like to refer a patient, please fax a completed referral form, and a report of the patient's most recent echocardiogram (with height and weight) to 310-423-1528 attention Mitchel.
Coordinator Mitchel Pariani, MS
- Ehlers-Danlos National Foundation - www.ednf.org
- San Fernando Valley Chapter Head website
- Information about EDS - Genetics Home Reference
Osteogenesis Imperfecta (OI)
- Osteogenesis Imperfecta National Foundation - www.oif.org
- Information about OI - Genetics Home Reference