Genetic Origin of Congenital Heart Disease Identification of genetic variants causing congenital heart disease

Recruiting

Conditions: Congenital Heart Disease
Heart Defects
10010394

Registration Number: NL-OMON47377

Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 1050

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

(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.

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Biobanking of blood and tissue of a large number of patients with CHD.<br /><br>Identification of genetic variants causative of CHD. Expression of candidate<br /><br>genes in zebrafish model. Overall goal is to gain insight in cardiac<br /><br>development by expanding our knowledge of genetic components in de novo and<br /><br>familial CHD.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>- To determine the functional consequences of identified genetic variants in<br /><br>CHD. Clinical information (type of CHD, clinical data and associated diseases)<br /><br>will be compared with observed variants of candidate genes. Pathways involved<br /><br>in the pathophysiology of CHD will be explored.<br /><br>- When novel diagnostic genes are discovered they will be added to the next<br /><br>version of the cardiome chip which is a diagnostic chip containing all genes<br /><br>know to cause cardiac disease known to date. It has been developed by de<br /><br>division of cardiology and medical genetics. This practical implementation of<br /><br>our study will be done according to their diagnostic standards and internal<br /><br>protocols.</p><br>