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Sponsored by: |
National Heart, Lung, and Blood Institute (NHLBI) |
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Information provided by: | National Heart, Lung, and Blood Institute (NHLBI) |
ClinicalTrials.gov Identifier: | NCT00005546 |
To identify genes involved in the pathogenesis of three types of congenital heart disease, atrial septal defects, paramembranous ventricular septal defects, and atrioventricular canal defects.
Condition |
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Cardiovascular Diseases Heart Diseases Defect, Congenital Heart Heart Septal Defects, Ventricular Heart Septal Defects, Atrial Endocardial Cushion Defects |
Study Type: | Observational |
Study Design: | Natural History |
Study Start Date: | January 1999 |
Estimated Study Completion Date: | December 2004 |
BACKGROUND:
Congenital heart defects (CHDs) are thought to result from genetic and environmental factors that disturb cardiac embryogenesis. Because families with multiple members affected with atrial septal defects (ASDs) and atrioventricular canal defects (AVCDs) have been described in previous studies, and the paramembranous ventricular septum is in part completed by the formation of the atrioventricular cushions, this project describes a genetic-epidemiologic study of ASDs, paramembranous ventricular septal defects (VSDs), and AVCDs
DESIGN NARRATIVE:
The study is one of several subprojects within a Specialized Center of Research (SCOR) in Pediatric Cardiovascular Disease. Three groups of subjects, each with surgically- or echocardiographically-confirmed diagnoses of ASDs, VSDs or AVCDs have been identified for study at the University of Iowa Hospitals and Clinics, and at Wolfson Children's Hospital in Jacksonville, Florida. A fourth group of older subjects with ASDs and their progeny will be studied at Iowa because of the reported high recurrence of heart disease in the offspring of subjects with ASDs. The strategy calls upon the molecular genetic capacities available at the University of Iowa to carry out genome-wide searches for genetic loci involved in these defects. Several candidate regions have been identified for ASDs, VSDs and AVCDs. In addition, three well-recognized syndromes provide additional candidate regions - Down syndrome, Holt-Oram syndrome and 8p-syndrome. Parent-affected child trios will be genotyped for closely-spaced markers within these regions and linkage disequilibrium analysis will be used to narrow or exclude these candidate intervals. A genome-wide association study of the trios will employ a parsimonious technique in which DNA from cases with the same CHD phenotype will be pooled, and compared to the pooled DNA from their parents. Loci will be identified where the allele frequency distributions in the affected children and their parents are significantly different. When such loci are identified, a finer localization of the chromosomal area will be undertaken using a high-density set of short tandem repeat polymorphic markers that spans each of the candidate intervals.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
No eligibility criteria
Study ID Numbers: | 5090 |
Study First Received: | May 25, 2000 |
Last Updated: | June 23, 2005 |
ClinicalTrials.gov Identifier: | NCT00005546 History of Changes |
Health Authority: | United States: Federal Government |
Heart Septal Defects Heart Diseases Cardiovascular Abnormalities Heart Septal Defects, Ventricular Ventricular Septal Defects |
Congenital Heart Septum Defect Endocardial Cushion Defects Congenital Abnormalities Heart Defects, Congenital Heart Septal Defects, Atrial |
Heart Septal Defects Heart Diseases Cardiovascular Abnormalities Heart Septal Defects, Ventricular Cardiovascular Diseases |
Endocardial Cushion Defects Congenital Abnormalities Heart Defects, Congenital Heart Septal Defects, Atrial |