Congenital heart disease is one of the most common congenital malformations, affecting 1–1.8% of all live births, with a wide spectrum of forms that can range from causing no health problems, which is the majority, to serious life-threatening situations from birth, which, fortunately, are the most infrequent.

Martina Brueckner, Richard Lifton and their colleagues have published a large-scale study in PNAS (Proceedings of the National Academy of Sciences) on the impact of rare genetic variants on congenital heart disease, with the intention of having genetic markers that justify their use in a preconception manner in those families with a high prevalence of severe congenital heart disease.

The authors analysed 248 genes in 11,555 individuals with congenital heart disease, and identified 60 of these genes in 10.1% of the individuals studied, which corresponded to newly acquired mutations transmitted from parents to children, but especially 4 genes (KMT2D, CHD7, PTPN11 and NOTCH1) were responsible for a third of these mutations in the group analysed.

These findings suggest that genetic testing can have important clinical value and expand knowledge about the genetics of congenital heart disease, supporting the use of molecular diagnostics in its evaluation.