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Genetic Studies

Cedars-Sinai Heart Institute is currently conducting the following genetic studies:

Genetic Determinants of Bicuspid Aortic Valve Disease

Principal Investigator: Kirsten Tolstrup, MD

IRB Approval Number: 4120

Contact: David Gallegos, RN (310) 423-4993

Recruiting

Summary: The present study is designed to assess familial clustering of Bicuspid Aortic Valve disease (BAV) and to identify genes that may be involved in the development of BAV and its complications. The study enrolls subjects age 5 or older with bicuspid aortic valve disease and their first degree family members. All subjects will have an ultrasound to evaluate for BAV, blood draws for genetic studies and serum markers and hand-forearm X-ray. In addition, a medical and family history questionnaire will be filled out and a family tree be constructed. Subjects will be followed for 5 years.