Developmental programming of congenital heart diseases and cardiovascular risk factors : Periconception epidemiologic and epigenetic studies

Congenital heart diseases (CHDs) are the most common birth defects worldwide with over 1 million children born each year. Since the pathogenesis is still largely unknown we aimed to investigate environmental and epigenetic determinants associated with CHD. Cardiovascular disease (CVD) risk factors increase with age, however, they are becoming more common at a younger age. In women of reproductive age they can have impact on pregnancy course and outcome. We examined intergenerational effects of CVD risk factors on the offspring. Epidemiologic and epigenetic studies are used to address the following aims:

Part I – Congenital heart diseases 1. To study intergenerational effects of grandparental CVD on CHD risk in the offspring.
2. To investigate the influence of parental nongenetic risk factors on CHD risk in the offspring.
3. To explore epigenome-wide DNA methylation using an hypothesis-free approach in very young children with nonsyndromic and syndromic CHD.

Part II – Cardiovascular risk factors
4. To investigate associations between maternal CVD risk factors and embryonic growth.
5. To assess gene-specific DNA methylation in young children and associations with serum lipid levels.