Congenital Heart Disease Heart Defects
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: - Patient has Congenital Heart Disease - Patient undergoes an invasive procedure (cardiac catheterization or cardiac surgery) during which DNA can be obtained
Exclusion criteria
Exclusion criteria: (1) No informed consent obtained for present study. (2) Patients that do not allow to be informed about unexpected genotypic findings to which known treatments are available. (3) No informed consent for blood sample drawing by one of the parents for NGS (4) Patient is a monozygotic twin.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Biobanking of blood and tissue of a large number of patients with CHD. Identification of genetic variants causative of CHD. Expression of candidate genes in zebrafish model. Overall goal is to gain insight in cardiac development by expanding our knowledge of genetic components in de novo and familial CHD. | — |
Secondary
| Measure | Time frame |
|---|---|
| - To determine the functional consequences of identified genetic variants in CHD. Clinical information (type of CHD, clinical data and associated diseases) will be compared with observed variants of candidate genes. Pathways involved in the pathophysiology of CHD will be explored. - When novel diagnostic genes are discovered they will be added to the next version of the cardiome chip which is a diagnostic chip containing all genes know to cause cardiac disease known to date. It has been developed by de division of cardiology and medical genetics. This practical implementation of our study will be done according to their diagnostic standards and internal protocols. | — |
Countries
Netherlands
Outcome results
None listed