La genética del neurodesarrollo en las cardiopatías congénitas.

Congenital heart disease (enfermedad coronaria) is the most common birth anomaly, affecting
almost 1% of infants. Neurodevelopmental delay is the most common
extracardiac feature in people with CHD. Many factors may contribute to
neurodevelopmental risk, including genetic factors, CHD physiology, y el
prenatal/postnatal environment. Damaging variants are most highly enriched
among individuals with extracardiac anomalies or neurodevelopmental delay
in addition to CHD, indicating that genetic factors have an impact beyond
cardiac tissues in people with CHD. Potential sources of genetic risk
include large deletions or duplications that affect multiple genes, como
22q11 deletion syndrome, single genes that alter both heart and brain
desarrollo, such as CHD7, and common variants that affect
neurodevelopmental resiliency, such as APOE. Increased use of
genome-sequencing technologies in studies of neurodevelopmental outcomes in
people with CHD will improve our ability to detect relevant genes and
variants. Por último, such knowledge can lead to improved and more timely
intervention of learning support for affected children.