sciencemag alessandro giardini pubblication

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Congenital heart disease (CHD) patients have an increased prevalence of extracardiac congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome sequencing of 1213 CHD parent-offspring trios identified an excess of protein-damaging de novo mutations, especially in genes highly expressed in the developing heart and brain. These mutations accounted for 20% of patients with CHD,…

best sports children chronic conditions

Which are the best sports for children with chronic conditions?

As children are returning to school they will also resume participation in physical activity. However, the choice of the type of sport to practice is not only based on personal preference. Some chronic conditions like diabetes, asthma, hyperactivity, congenital heart disease or cancer (which overall affect 1 in 200 children in the 0-16 years age…

vaccine

Vaccinations in children with heart disease

Vaccinations provide clear advantages to children and vaccinations are generally recommended also to children with congenital or acquired heart disease. The main benefits of vacinations are that the response of the immune system and the symptoms triggered by the vaccination are considerably milder and complications are fewer than those experienced when the real-life infection is…

smoke children parents

Children exposed to parental smoking have worst intima-media thickness as young adults

Despite the decreasing prevalence of smoking in developed world, those most likely to smoke are in their 20-40s, the period that corresponds to parenthood. Several cross sectional studies in children have shown that exposure to passive smoke affects vascular health, including impaired endothelial function, arterial stiffness, and greater intima-media thickness. In a new prospective study…

child heart 3d model heart

Do you want to see a 3D model of your heart?

On-going research at the Centre for Cardiovascular Imaging (UCL Institute of Cardiovascular Science) and at the Cardiothoracic Unit at Great Ormond Street Hospital for Children in London is looking into the potential of using 3-dimensional patient-specific models of congenital heart diseases in clinical practice. Such models, produced with a technique known as “rapid prototyping”, can…