Core--ECHOCARDIOGRAPHIC STUDIES OF VALVULAR HEART DISEASE

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A major theme of this SCCOR is discovery and elucidation of genetic defects that result in congenital cardiovascular malformations, particularly those affecting valvulogenesis. The objectives of Core B are twofold: 1. To ensure the availability of cohorts of patients with specific cardiovascular anomalies in whom phenotype has been well characterized by echocardiography. To catalogue and store echocardiographic and additional relevant clinical material along with DNA from both probands and parents so that the information is easily accessible, both by the SCCOR participants and other interested parties who satisfy the privacy governance issues that will be put in place. 2. To provide echocardiographic characterization of extended family members for probands with bicuspid or bicommisural aortic valve (BAV) (Project 1) or Noonan syndrome (NS) (Project 2). The resources obtained by these critical Core functions will facilitate identification of novel candidate genes and their genotype-phenotype correlations. As candidate genes become apparent, they can immediately be moved into mechanistically based studies by all of the SCCOR's participants.