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Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
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Congenital diaphragmatic hernia with congenital heart disease including ventricular septal defect: Risk factors

Yuichi Hirano1, Keita Terui1, Wataru Kudo1

  • 1Department of Pediatric Surgery, Chiba University Graduate School of Medicine, Chiba, Japan.

Pediatrics International : Official Journal of the Japan Pediatric Society
|June 10, 2025
PubMed

Insights

Congenital diaphragmatic hernia (CDH) with ventricular septal defect (VSD) has a poor prognosis. Low lung volume is a key risk factor for mortality in these infants, similar to isolated CDH cases.

Area of Science:

  • Pediatric Surgery
  • Neonatal Cardiology
  • Medical Genetics

Background:

  • Congenital diaphragmatic hernia (CDH) significantly impacts neonatal outcomes, especially when associated with congenital heart disease (CHD).
  • Ventricular septal defect (VSD) is the most frequent CHD complication in CDH cases, contributing to poor prognosis.
  • Identifying prognostic factors is crucial for managing CDH with VSD.

Purpose of the Study:

  • To determine the prognostic factors for CDH associated with VSD.
  • To compare outcomes between survivors and non-survivors in a cohort of neonates with CDH and VSD.

Main Methods:

  • A retrospective observational study was conducted on neonatal CDH with CHD cases from 2000-2022.
  • Risk factors for CDH with VSD were analyzed by comparing survivors and non-survivors.
  • Prenatal diagnosis and lung volume metrics were assessed.

Main Results:

  • Of 84 CDH infants, 14 had CHD, with 11 cases of VSD (79% of CHD).
  • Survival rate for CDH with prenatal diagnosis of left-sided disease and VSD was 56%.
  • Low lung volume (observed/expected lung area-to-head circumference ratio ≤ 35%) was significantly higher in non-survivors (75% vs. 0%, p=0.048). Non-survivors also had severe CHD or pulmonary hypertension.

Conclusions:

  • Low lung volume is a significant risk factor for CDH with VSD, impacting survival.
  • This finding is comparable to prognostic factors in isolated CDH cases.
  • Early identification of low lung volume is critical for managing CDH with VSD.
Abstract

Keywords:
congenital diaphragmatic herniacongenital heart defectsheart septal defectpulmonary hypertensionrisk factors

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