Cardiovascular Diseases Clinical Trial
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).
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
major gene defect which resulted in deformities of the atrioventricular canal. If and when
such evidence was found, linkage studies were carried out in an attempt to pinpoint the
location of the major gene in the genome.
When the SCOR was renewed in 1995, the objectives were to identify polymorphisms in
candidate genes and to use the polymorphisms for genetic association studies in patients.
Subjects included those with Down syndrome and atrioventricular canal defects, non-Down
subjects with atrioventricular canal defects, Down syndrome subjects with no functional
heart disease, normal subjects with no heart disease or Down syndrome, Down syndrome
subjects with perimembranous interventricular septal defects, and non-Down subjects with
perimembranous interventricular septal defects. In addition, polymorphisms within candidate
genes, as well as the highly polymorphic short tandem repeat polymorphisms (STRPs), were
used in a genome-wide linkage search for the gene in large families with multiple affected
individuals. When association or linkage studies suggested involvement of a specific gene, a
search for mutations in the gene was carried out. In addition, the investigators determined
whether a likely candidate chromosomal region (chromosome 21q21.1-qter) was involved in
non-Downs AVCD by using molecular techniques to search for allele loss, uniparental disomy,
and cryptic translocations. They also investigated the molecular genetic variability
associated with endocardial cushion and ventricular septal development in Down syndrome
subjects with and without heart disease and in normal subjects. Examinations were carried
out in the relatives of these subjects to ascertain whether they had congenital heart
defects or any other congenital anomalies. This was accomplished by obtaining family
pedigrees, medical histories, and examining 1st degree relatives (and, if positive, 2nd and
3rd degree relatives) utilizing echocardiographic and electrocardiographic techniques.
The study completion date listed in this record was obtained from the "Completed Date"
entered in the Query View Report System (QVR).
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