Clinical Trial: Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title:

Brief Summary: To identify genes involved in the pathogenesis of congenital heart disease, including atrial septal defects (ASDs), paramembranous ventricular septal defects (VSDs), and atrioventricular canal defects (AVCDs).

Detailed Summary:

BACKGROUND:

In 1987, when the third renewal of the Ischemic Heart Disease Specialized Centers of Research renewal was considered, the Cardiology Advisory Committee recommended that the scope of the SCORs should be broadened to include peripheral vascular disease, congenital heart disease, and heart failure. The National Heart, Lung, and Blood Advisory Council concurred in this recommendation and the Request for Applications for a Specialized Centers of Research in Coronary and Vascular Disease, Heart Failure and Congenital Heart Disease was issued in July 1987. The study was renewed in 1999 as P50HL62178.

DESIGN NARRATIVE:

Beginning in 1990, the molecular genetic epidemiology of endocardial cushion defects in four groups of individuals was investigated in this subproject within a SCOR in Pediatric Cardiovascular Disease. Subjects included those with Down syndrome and endocardial cushion defects, those with non-syndromic endocardial cushion defects, those with Down syndrome and no congenital heart disease, and those with normal hearts. Examinations were carried out in the relatives of these subjects to ascertain whether they had endocardial cushion defects and other chromosome 21-related disorders, such as Down syndrome and Alzheimer's disease. This was accomplished by obtaining family pedigrees and examining 1st, 2nd and 3rd degree relatives utilizing electrocardiographic and echocardiographic techniques. Venous blood was obtained from the probands and the relatives for association studies with DNA probes that were known to relate to chromosome 21 and to genes located on other chromosomes that may affect cardiac embryogenesis. Segregation analysis focused on families of the subjects with non-syndromic endocardial cushion defects to determine whether there was evidence for a
Sponsor: National Heart, Lung, and Blood Institute (NHLBI)

Current Primary Outcome:

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: National Heart, Lung, and Blood Institute (NHLBI)

Dates:
Date Received: May 25, 2000
Date Started: January 1990
Date Completion:
Last Updated: September 27, 2016
Last Verified: August 2004