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Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease

This study has been completed.
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI) Identifier:
First received: May 25, 2000
Last updated: May 12, 2016
Last verified: December 2004
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.

Cardiovascular Diseases
Heart Diseases
Defect, Congenital Heart
Heart Septal Defects, Ventricular
Heart Septal Defects, Atrial
Endocardial Cushion Defects

Study Type: Observational

Resource links provided by NLM:

Further study details as provided by National Heart, Lung, and Blood Institute (NHLBI):

Study Start Date: January 1999
Study Completion Date: December 2004
Detailed Description:


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


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.

The study completion date listed in this record was obtained from the "End Date" entered in the Protocol Registration and Results System (PRS) record.


Ages Eligible for Study:   up to 100 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
No eligibility criteria
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Please refer to this study by its identifier: NCT00005546

Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
OverallOfficial: Ronald Lauer University of Iowa
  More Information Identifier: NCT00005546     History of Changes
Other Study ID Numbers: 5090
P50HL062178 ( US NIH Grant/Contract Award Number )
Study First Received: May 25, 2000
Last Updated: May 12, 2016

Additional relevant MeSH terms:
Cardiovascular Diseases
Heart Diseases
Heart Septal Defects
Congenital Abnormalities
Heart Defects, Congenital
Heart Septal Defects, Atrial
Heart Septal Defects, Ventricular
Endocardial Cushion Defects
Cardiovascular Abnormalities processed this record on April 28, 2017