Table 3, online.

Clinical and genetic summaries of all reported atypical ACD/MPV patients with FOXF1 impacting variants.

Clinical and Genetic Summaries for Patients with Identified Genetic Causes of Atypical ACD/MPV
Age at Px	Preceding Respiratory Symptoms	Acute PVD testing	Clinical PVD Response	Genetic	Extrapulmonary Defects	Outcome	Ref
120 days	PPHN	Not performed	Partial -Responsive to Sildenafil in late course	FOXF1 p.V96L	Duodenal atresia	Transplant – 26 months	Pt 1
8 days	TTN	PVRi 8.6 to 4.9 WU*m2	Partial - Intermittent pulmonary edema	FOXF1 p.Y89C	Hirschsprung’s disease	Transplant – 4 months	Pt 2
35 days	None	PVRi 15.0 to 5.8 WU*m2	Complete – No pulmonary edema	FOXF1 p.P322fs	Intestinal nonrotation	Transplant-free-survival – 26 months	Pt 3
8 days	PPHN	PVRi 18.4 to 10.7 WU*m2	Partial -Intermittent pulmonary edema	16q23.3q24.1 del including LINC01082 and LINC010801	Immunodeficiency Hydrocephalus	Death prior to transplant 10 months	Pt 4
7 months	Respiratory distress at birth	Not reported	Partial – Initial positive clinical response but decompensation at 14 months.	De novo maternal 16q24.1 deletion affecting LINC010802	None	Transplant – 15 months	10
5 months	None	Not reported	Complete – Clinically responsive to iNO, IV and PO PVDs	FOXF1 p.L300fs	None	Transplant-free survival-38 months.	8
Birth	N/A	Reported positive	Managed with iNO	FOXF1 p.P49Q	Posterior urethral valves	Transplant – 20 months	11 -Pt 2
67 days	Poor feeding	Not reported	Managed with sildenafil and iNO	16q23.3q24.1 1.5 MB deletion	None	Transplant – 5 months	11 - Pt 4
212 days	Tachypnea and mild hypoxia	Reported Positive	Managed with sildenafil and iNO	FOXF1 p.P126L	None	Transplant – 15 months	11 - Pt 6

Abbreviations: alveolar capillary dysplasia/misalignment of pulmonary veins (ACD/MPV), inhaled nitric oxide (iNO), per oral (PO), persistent pulmonary hypertension of the newborn (PPHN), pulmonary hypertension (PH), pulmonary vasodilators (PVD), transient tachypnea of the newborn (TTN), indexed Wood units (WU*m²)