Building a South-Eastern French Database and DNA Bank for Congenital Heart Defects to Study Genetic Causes

What this Trial Is About

Congenital heart defects affect about 0.8% of live births, with over 5,000 newborns affected annually in France. The south-east region of France has a higher rate of these defects due to increased birth rates and consanguinity. While genetic causes are important, they are not well understood, and large-scale DNA collections with detailed disease classification are needed to improve knowledge. Currently, such a DNA bank exists in Paris but not in the south-east region. This research aims to create a local database and DNA bank named SEA-HD in the south-east of France to collect biological samples and detailed clinical information on congenital heart defects. The study involves collecting blood samples from patients diagnosed by echocardiography using a specific classification system. This setup allows local genetic analysis and storage without the high costs of transporting samples to Paris. Participants will undergo blood tests as part of their care at the AP-HM Timone Hospital pediatric cardiology unit in Marseille. Researchers will track the number of patients with congenital heart defects over three years. The study includes genetic sample collection, medical evaluations, and long-term monitoring of patients health and genetic data. The trial aims to enhance understanding of genetic pathways in congenital heart disease through this regional database and biobank.

Creation of a French South-Eastern Database and DNA-bank of Congenital Heart Disease to Explore the Genetic Pathways