Recognition of congenital heart defects caused by CHD7 gene mutations

Completed

• Conditions: congenital heart defects; 10007510; 10010394

• Registration Number: NL-OMON34693
• Lead Sponsor: niversitair Medisch Centrum Groningen

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 6 May 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 50

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

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The absolute number of mutations found in the CHD7 gene and the co-existing<br /><br>medical problems in patients in whom a CHD7-mutation is found.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>not applicable</p><br>