NL-OMON34693
Completed
Not Applicable
Recognition of congenital heart defects caused by CHD7 gene mutations - CHD and CHD7
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- congenital heart defects
- Sponsor
- niversitair Medisch Centrum Groningen
- Enrollment
- 50
- Status
- Completed
- Last Updated
- last year
Overview
Brief Summary
No summary available.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Patients already available at the department of Genetics of the UMCG or a cohort of children with CHD of the department of Paediatric Cardiology of the RUNMC who
- •1\.have a congenital heart defect that fits the spectrum of congenital heart defects found in patients with a CHD7\-mutation.
- •2\.have at least one other feature of CHARGE syndrome
- •3\.do not have another known cause of their congenital heart defect
Exclusion Criteria
- •\- Patients with an already identified (genetic) cause of their congenital heart defect.
- •\- Patients who do not want to be informed about the result of the CHD7 analysis
Outcomes
Primary Outcomes
Not specified
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