Over the last four years, the Clinical Core has recruited a large cohort of patients with conotruncal defects for 22q11 deletion screening and genotype/phenotype analyses performed by Core B, and Projects 1 and 2 of the existing SCOR. The Clinical Core has also gathered an extensive amount of clinical information on each proband and developed a database in which to record the data for further analyses. The original proposal focused on the frequency of 22q11 deletions in the cardiac population and the correlation of this genotype with phenotype. Although investigations on the deleted patient population continue, attention has now turned to the substantial number of non-deleted patients with these cardiac defects. To provide patient material for investigations aimed at identifying additional genetic and non-genetic contributions to conotruncal malformations proposed by Projects 1 and 2 and future investigations, the Clinical Core will: (1) continue to recruit patients with conotruncal defects for the investigations proposed in Projects 1 and 2; these projects focus on the genetic etiology of these defects in patients without a 22q11 deletion; (2) expand recruitment to include patients with other types of CHD for the investigations proposed in Project 2, namely patients with pulmonary valve or pulmonary vascular tree abnormalities; (3) prospectively and retrospectively obtain samples from parents and siblings of patients recruited as study subjects for the transmission disequilibrium testing (TDT) proposed in Project 1; (4) obtain additional extracardiac medical data on the proband as well as elicit complete family medical, pregnancy and birth histories in order to identify families with multiple affects members, associated extracardiac findings and non-genetic risk factors relevant to Projects 1 and 2 and future investigations; and (5) expand the database to include additional epidemiologic, family medical and non-cardiac medical history on the proband for investigations proposed in Projects 1 and 2.
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