dbGaP Protocol: The Pediatric Cardiac Genetics Consortium (PCGC)

Overview

Background: Researchers do not know much about the causes of congenital heart disease (CHD). They do know that many factors play a role. Some factors are environmental. Some are genetic. But few specific factors have been identified. And researchers do not know how many involve genes. They want to study data that has already been collected from people with CHD and their families. Objectives: To identify genetic variations related to CHD. To study molecules related to vascular disease in order to learn new ways to treat it. Eligibility: People who already participated in the Pediatric Cardiac Genomics Consortium (PCGC) study Design: Researchers will study data that was already collected in the PCGC. There will be no active participants. Researchers will get access to the data through the coordinating center. They will not download data to local storage devices. The data will have no personally identifying information....

Current understanding of the causes of congenital heart disease (CHD) is limited, but CHD is known to be multifactorial and affected by a combination of environmental, teratogenic, and genetic causes. Furthermore, both genetic and environmental factors have been proposed to act as disease modifiers, accounting for a wide variation in phenotypic expression and clinical outcomes of these disorders. To date however, few specific genetic or environmental causative factors have been identified, nor is it even known what proportion of cases involve genetic factors.

Conditions

Eligibility