Marfan Syndrome Center & Connective Tissue Disorder Clinic

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, M.S.

Medical Genetics

For a formal clinical evaluation of Marfan syndrome and all other connective tissue disorders:

Genetic Counselor: Mitchel Pariani, MS
Medical Genetics Institute
Ph: (310) 423-9914

Cardiology

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:

Pediatric Cardiologist:
David Ferry, M.D
Encino Heart Center
Schedule an appointment

Adult Cardiologist:
Robert Sigel, M.D.
Cedars-Sinai Heart Institute
Call (310) 423-3849 to schedule an appointment

Ophthalmology

For ocular screening and treatment options for issues related to Marfan syndrome and connective tissue disorders.

Pediatric Ophthalmology:
Ken Wright, M.D.
Wright Eye Care
Schedule an appointment

Adult Ophthalmology:
Johathan Macy, M.D
Macy Eye Center
Schedule an appointment

Orthopedics

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

Pediatric Orthopedist:
Robert Bernstein, Jr., M.D.
Cedars-Sinai Orthopaedic Center

Adult Orthopedist:
William Hohl, M.D.
Cedars-Sinai Orthopaedic Center

Cardio-Thoracic Surgery

For those who need pectus bar placement and for those seeking surgical repair of cardiovascular features of connective tissue disorders. 

Pediatric Surgery:
Cedars-Sinai Pediatric Surgical Services
Please call 310-423-2331 to schedule an appointment

Cardio-Thoracic Surgery:
Alfredo Trento, M.D.
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, M.S.
Ph: (310) 423-9861
Fax: (310) 423-1528 

Resources

Marfan Syndorme

  • National Marfan Foundation - www.marfan.org
  • Los Angeles and Orange County NMF Regional Chapter  website
  • Information about Marfan Syndrome
  • Frequently Asked Questions about Marfan Syndrome

Ehlers-Danlos Syndrome

Osteogenesis Imperfecta (OI)

 

 

 

 

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