Recognition of congenital heart defects caused by CHD7 gene mutations

Recognition of congenital heart defects caused by CHD7 gene mutations - CHD and CHD7

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON34693

Enrollment

Registered

2010-04-23

Start date

2010-11-29

Completion date

Unknown

Last updated

2024-05-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

congenital heart defects

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion 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

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

Design outcomes

Primary

Measure	Time frame
The absolute number of mutations found in the CHD7 gene and the co-existing medical problems in patients in whom a CHD7-mutation is found.	—

Countries

Netherlands

Outcome results