Heart failure and cardiac repair; genes for heart repair and plasticity

Knowledge about the mechanisms in heart development is important for improving
therapy in cardiac disease. Nature provides us with two model systems, that of
the normal development path and that of the abnormal or incorrect pathway which
leads to congenital heart defects.

- Identify key factors of the cardiac transcriptome in patients with cardiac
malformations
- Identify the transcriptional regulatory interactions underlying the cardiac
transcriptome
- Bioinformatically map and analyse the cardiac regulatory network to show the
potential impact of key regulators and targets on the development of cardiac
malformations

Identify patients with underdeveloped heart chamber in the CONCOR-database for
DNA-analysis. For analysis we also need to compare the already available DNA of
the patient in the CONCOR-bank with the DNA of his parents. If we find a
mutation in the patient then by comparison with the parent's DNA we know if it
concerns either a new mutation or a polymorphism.
Patients are approached via their own cardiologist to approach their parents
for study participation. After informed consent parent's DNA will be isolated
from blood and genetic analysis will be done.

-Patients with the specified congenital heart defects are asked to contact
their parents for DNA-research.
-The risks for the parents are minimal, comparable with any other vena punction.
-All data will be anonymised in a coded database.