Congenital Heart Disease with Congenital Diaphragmatic Hernia: Surgical Decision Making and Outcomes

J Pediatr. 2023 Sep:260:113530. doi: 10.1016/j.jpeds.2023.113530. Epub 2023 May 31.


Objective: To describe the types of congenital heart disease (CHD) in a congenital diaphragmatic hernia (CDH) cohort in a large volume center and evaluate surgical decision making and outcomes based on complexity of CHD and associated conditions.

Study design: A retrospective review of patients with CHD and CDH diagnosed by echocardiogram between 01/01/2005 and 07/31/2021. The cohort was divided into 2 groups based on survival at discharge.

Results: Clinically important CHD was diagnosed in 19% (62/326) of CDH patients. There was 90% (18/20) survival in children undergoing surgery for both CHD and CDH as neonates, and 87.5 (22/24) in those undergoing repair initially for CDH alone. A genetic anomaly identified on clinical testing was noted in 16% with no significant association with survival. A higher frequency of other organ system anomalies was noted in nonsurvivors compared with survivors. Nonsurvivors were more likely to have unrepaired CDH (69% vs 0%, P < .001) and unrepaired CHD (88% vs 54%, P < .05), reflecting a decision not to offer surgery.

Conclusions: Survival was excellent in patients who underwent repair of both CHD and CDH. Patients with univentricular physiology have poor survival and this finding should be incorporated into pre and postnatal counseling about eligibility for surgery. In contrast, patients with other complex lesions including transposition of the great arteries have excellent outcomes and survival at 5 years follow-up at a large pediatric and cardiothoracic surgical center.

Keywords: cardiac and thoracic surgery; genetics; outcomes; prenatal counseling.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Child
  • Decision Making
  • Heart Defects, Congenital* / complications
  • Hernias, Diaphragmatic, Congenital* / complications
  • Humans
  • Infant, Newborn
  • Retrospective Studies
  • Survival Rate
  • Transposition of Great Vessels* / complications