Posted: Jan 28, 2023
Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.
Sarah U Morton et al. JAMA network open 2023 1 (1) e2253191
Are damaging de novo variants in genes not previously associated with neurodevelopmental risk (dDNV-NR) associated with worse neurologic findings in individuals with congenital heart disease (CHD)? In this cross-sectional study of 221 patients with CHD, dDNV-NRs as a group were not associated with neurologic outcomes. In post hoc analyses, dDNVs and rare putative loss-of-function (pLOF) variants, especially in chromatin-modifying genes, were associated with worse neurodevelopmental and brain magnetic resonance imaging (MRI) metrics.
Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease.
Spendlove Sarah J et al. HGG advances 2022 5 (3) 100112
Here we used CHD-phenotype matched genome-wide association study (GWAS) summary statistics from the UK Biobank (UKBB) as our base study and whole-genome sequencing data from the CHD cohort (n1 = 711 trios, n2 = 362 European trios) of the Gabriella Miller Kids First dataset as our target study to develop PRSs for CHD. PRSs estimated using a GWAS for heart valve problems and heart murmur explain 2.5% of the variance in case-control status of CHD.
5 Things to Know About Heart Defects
CDC, February 2022
Heart defects are the most common type of birth defect, affecting nearly 1% of births – or about 40,000 births – per year in the United States. It is estimated that more than two million people in the United States are living with heart defects. Some heart defects can be found during pregnancy by looking at ultrasound pictures of the heart of the developing baby. Other heart defects aren’t detected until birth through newborn screening, or later in life, during childhood or adulthood. Screening newborns for heart defects allows them to be treated early and may prevent other health problems or early death. A CDC study found that, as of 2018, all 50 states and Washington, D.C. have newborn screening programs that test for critical congenital heart defects.