Early echocardiographic hemodynamic phenotypes and clinical outcomes in congenital diaphragmatic hernia

Early postnatal hemodynamic adaptation may contribute to outcome heterogeneity in congenital diaphragmatic hernia (CDH). We evaluated whether echocardiography-defined hemodynamic phenotypes within 24 h of birth were associated with cardiorespiratory severity and extracorporeal membrane oxygenation (ECMO) or death. This retrospective cohort included infants with CDH admitted to a tertiary neonatal intensive care unit from 2021 to 2025 who underwent echocardiography within 24 h. Phenotypes were classified as no/mild pulmonary hypertension (PH), right ventricular (RV)-predominant PH, or left ventricular (LV)-involved PH based on ventricular function and ductal/atrial shunt direction. Associations with prenatal severity, respiratory indices, and ECMO or death were assessed. Among 66 infants, 21 had no/mild PH, 22 RV-predominant PH, and 23 LV-involved PH. ECMO or death occurred in 0%, 27.3%, and 65.2%, respectively (P < 0.001). Compared with RV-predominant PH, LV-involved PH was associated with greater respiratory severity and more frequent LV dysfunction; observed-to-expected lung-to-head ratio (O/E LHR) did not differ significantly between these two groups. Ordinal phenotype severity remained associated with ECMO or death after adjustment for O/E LHR (odds ratio (OR), 5.98; 95% confidence interval (CI), 1.76-20.31; P = 0.004). However, the comparison between LV-involved and RV-predominant PH was no longer statistically significant after adjustment for O/E LHR (OR, 3.42; 95% CI, 0.87-15.10).

Early hemodynamic phenotype was associated with cardiorespiratory severity and ECMO or death in CDH. LV-involved PH identified a high-risk phenotype and may complement prenatal anatomic risk stratification, although its independent prognostic value beyond prenatal lung size requires validation.

• Prenatal lung size and liver herniation are established markers of disease severity and outcome in congenital diaphragmatic hernia (CDH). • Pulmonary hypertension and ventricular dysfunction contribute substantially to early cardiorespiratory instability and adverse outcomes in infants with CDH.

• Early echocardiographic phenotypes were associated with cardiorespiratory severity and ECMO or death. • LV-involved PH identified a high-risk phenotype, although its prognostic value beyond prenatal severity remains uncertain.