A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease

Patients with congenital heart disease (CHD) are identified in 1% of live births. Improved surgical intervention means many patients now survive to adulthood, the corollary of which is increased mortality in the over-65-year-old congenital heart disease population. In the clinic, genetic sequencing increasingly identifies novel genetic variants in genes related to CHD.

Citation:
Forbes CA, Shaw NC, Chen KG, Hedges M, Er TS, Hool L, …….. Lassmann T, Fear VS. A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease. Hum Genomics. 2026;20(1).

Keywords:
CRISPR gene editing; Cardiac disease modelling; Congenital heart disease; GATA4; Induced pluripotent stem cells

Abstract:
Patients with congenital heart disease (CHD) are identified in 1% of live births. Improved surgical intervention means many patients now survive to adulthood, the corollary of which is increased mortality in the over-65-year-old congenital heart disease population. In the clinic, genetic sequencing increasingly identifies novel genetic variants in genes related to CHD.