Identification of genes that are involved in congenital heart defects.
ID
Source
Brief title
Condition
- Congenital cardiac disorders
- Cardiac and vascular disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
A genetic variation in relatives, with or without congenital heart defects, of
patients with a congenital heart defect and a proven genetic variation.
Occurrence of (mild) congenital heart defects in relatives, with or without the
genetic variation found in de index patient, of patients with a congenital
heart defect and a proven genetic variation.
Secondary outcome
Not applicable
Background summary
Congenital heart defects are frequent, affecting approximately 1% of newborn
babies (8 per 1,000). Little is known about the genes that are involved in
isolated congenital heart defects. Research on genetic causes of congenital
heart defects provides insight into the developmental processes underlying
these heart defects. In the future, this may lead to a personalized therapeutic
strategy and adequate genetic counseling for patients and their relatives. It
could also identify interacting environmental elements that might be
prevented.
Study objective
Identification of genes that are involved in congenital heart defects.
Study design
Non-randomized monocenter observational cross-sectional study.
Patients registered in the CONCOR DNA-bank with a specific congenital heart
defect will be approached by their cardiologist at first, to receive permission
for contacting them again for participation in this study, if a variation has
been found in their DNA .
Patients with a variation who declared to agree with being approached, will be
contacted by mail and asked to participate in this particular study. If
participating, DNA-analysis will be repeated for confirmation of the genetic
variation. History and family history will be taken and a physical examination
will be performed.
Patients* first degree relatives are contacted as soon as the researcher
receives a list of relatives willing to participate from the index patient.
Relatives are asked about medical history and family history and undergo a
physical examination, as well as a cardiologic exam, consisting of ECG and
echocardiography. If relevant, previous medical records will be reviewed. Blood
will be taken for DNA-analysis.
If the mutation found in the index patient is familial, and/or if the family
history is positive for congenital heart defects, other relatives will also be
asked to participate in the study.
Data-analysis: DNA-analysis takes place in the laboratories of the departments
of Anatomy/Embryology and Clinical Genetics in the AMC. The molecular
biologist/geneticist will be blinded for patient data. ECG and echocardiography
are performed by a cardiologist with special expertise in congenital heart
defects, who will be blinded for the results of the DNA-analysis.
Data will be presented as a description of genetic segregation analysis.
Study burden and risks
Patients will have a history, family history and physical examination taken.
Blood will be taken for confirmation of the mutation that was previously found.
Relatives will have a history, family history and physical examination taken
and they will undergo echocardiography and ECG. As well, blood will be taken
for DNA analysis.
To our opinion, these investigations hold no risks for the participants.
Meibergdreef 9
1105 AZ Amsterdam
NL
Meibergdreef 9
1105 AZ Amsterdam
NL
Listed location countries
Age
Inclusion criteria
1) Patients with a congenital heart defect, with a variant in the DNA.
2) First degree relatives of patients with a congenital heart defect with a variant in the DNA.
Exclusion criteria
1) Patients with a congenital heart defect, without a variant in the DNA.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL18161.018.07 |