Almost all previously described CHD-APAH patients with pathogenic SOX17 or TBX4 variants had simple, isolated heart defects with an unreported surgical repair status including atrial septal defects (ASD), ventricular septal defects (VSD) and/or patent ductus arteriosus (PDA)8,16–18. The gene discussed is TBX4; the disease is ventricular septal defect.