One of the largest international genetic studies of congenital heart disease (CHD) highlights the significance, in particular forms of the disease, of spontaneous gene mutations not inherited from ...

Congenital heart disease (CHD) refers to a range of heart defects that are present at birth. It is a significant cause of morbidity and mortality among infants and children worldwide. Recent ...

The underlying cause of congenital heart disease is frequently unknown. However, advances in human genetics and genome technologies have helped expand congenital heart disease pathogenesis knowledge ...

The associations between long-term outcomes and genotype in CHDs. Keywords: Congenital heart disease, Genetics, Genome, diagnostics, treatments Important note: All contributions to this Research Topic ...

We sought to ascertain the utilisation of genetic testing in an adult congenital heart disease clinic. Methods We retrospectively reviewed the electronic clinic records of 102 consecutive patients ...

Background The prevalence of congenital heart defects (CHD) in Down syndrome (DS) varies considerably across studies (from 16 ...

61 Diagnosis relies on the Ghent criteria, which put increased weight on the cardinal features—aortic root aneurysm and ectopia lentis—and genetic testing in a recent revision.79 Pharmacotherapy with ...

Background: Double outlet right ventricle (DORV), a clinically significant congenital heart defect, occurs in 1–3% of individuals ... The wide variety of genetic defects resulting in a DORV phenotype ...