In humans, variants in CITED2 were identified in patients with congenital heart defects (CHD) such as sinus venosus atrial septal defects, abnormal pulmonary venous return to the right atria, Tetralogy of Fallot, dextrocardia and other ventricular septal defects [41,43], also seen in patients with MYRF variants [44]. Here, CITED2 is linked to ventricular septal defect.