Congenital heart anomaly in newborns with congenital diaphragmatic hernia: a single-center experience

Ultrasound Obstet Gynecol. 2015 Jun;45(6):683-8. doi: 10.1002/uog.14648. Epub 2015 May 4.


Objective: To evaluate the impact of the presence of a congenital heart anomaly (CHA) and its potential contribution to morbidity and mortality in infants with congenital diaphragmatic hernia (CDH).

Methods: In this retrospective cohort study, prenatal and postnatal data of all newborns diagnosed with CDH between January 2004 and December 2012 in a single center were reviewed. Cases were classified into two groups: those with 'isolated' CDH and those with both CDH and CHA. Patients with CHA were further subclassified into those with a major or minor CHA based on the Risk Adjustment for Congenital Heart Surgery-1 (RACHS-1), and the Society of Thoracic Surgeons-European Association for Cardiothoracic Surgery (STS-EACTS) scoring systems. Patients with associated non-cardiac anomalies, including 'syndromic cases', were excluded from the analysis. Primary and secondary outcomes were survival up to 1 year of age and a need for extracorporeal membrane oxygenation (ECMO), respectively.

Results: Of the 180 infants with CDH, 41 were excluded because of the presence of non-cardiac associated anomalies, 118 had isolated CDH and 21 had CDH with CHA (16 with minor and five with major CHA). Receiver-operating characteristics curve analysis demonstrated that the best cut-off for survival was when the score for CHA was ≤ 2 for both RACHS-1 (area under the curve (AUC), 0.74 (P = 0.04); sensitivity, 80.0%; specificity, 87.5%) and STS-EACTS (AUC, 0.83 (P = 0.03); sensitivity, 100%; specificity, 87.5%). Survival rate at 1 year was significantly lower in those with CHD and a major CHA (40.0%; P = 0.04) than in those with isolated CDH (77.1%) and those with CDH and a minor CHA (81.3%). We found no significant differences among the groups with regard to the need for ECMO.

Conclusions: In general, a milder form of CHA does not appear to have a negative impact on the survival of infants with CDH. However, mortality appears to be significantly higher in infants with CDH and a major form of CHA. The scoring systems appear to be useful as predictors for classifying the effects of CHA in this population of patients.

Keywords: ECMO; cardiac anomaly; chromosomal anomaly; congenital diaphragmatic hernia; lung-to-head ratio; prenatal diagnosis; pulmonary hypoplasia; survival.

MeSH terms

  • Extracorporeal Membrane Oxygenation / statistics & numerical data
  • Heart Defects, Congenital / classification
  • Heart Defects, Congenital / complications
  • Heart Defects, Congenital / mortality*
  • Hernias, Diaphragmatic, Congenital / complications
  • Hernias, Diaphragmatic, Congenital / mortality*
  • Humans
  • Infant
  • Infant, Newborn
  • Kaplan-Meier Estimate
  • ROC Curve
  • Retrospective Studies
  • Sensitivity and Specificity
  • Survival Rate