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Recent advances in the treatment of complex congenital diaphragmatic hernia-a narrative review
Kylie I Holden1, Matthew T Harting1,2
1Department of Pediatric Surgery, McGovern Medical School at the University of Texas Health Science Center and Children's Memorial Hermann Hospital, Houston, TX, USA.
Insights
Novel therapies are improving survival for infants with high-risk congenital diaphragmatic hernia (CDH). These advancements offer new hope for complex cases, including those requiring extracorporeal life support (ECLS) and with associated anomalies.
Area of Science:
- Pediatric Surgery
- Neonatal Critical Care
- Developmental Biology
Background:
- Congenital diaphragmatic hernia (CDH) is a complex anomaly impacting cardiopulmonary development.
- It leads to pulmonary hypertension, hypoplasia, and cardiac dysfunction, requiring intensive care.
- High-risk CDH patients face the greatest mortality and management challenges.
Purpose of the Study:
- To review novel approaches in the management of complex, high-risk congenital diaphragmatic hernia (CDH).
- To focus on patients with prenatal/postnatal indicators of high-risk defects, those on extracorporeal life support (ECLS), and those with cardiac/chromosomal abnormalities.
Main Methods:
- A comprehensive PubMed search was conducted in late 2022/early 2023.
- Keywords included "congenital diaphragmatic hernia (CDH)", "extracorporeal life support (ECLS)", "pulmonary hypertension", and "novel therapies".
- Evidence from trials, multicenter studies, single-center reports, and reviews was included.
Main Results:
- High-risk CDH represents the severe end of the disease spectrum, with approximately 50% survival.
- These patients account for the majority of CDH-related mortality.
- Risk stratification, best practices, and novel therapies are crucial for optimizing care.
Conclusions:
- High-risk CDH remains a significant clinical challenge.
- Investigational approaches are enhancing survival opportunities for these critically ill infants.
Background And Objective:
Congenital diaphragmatic hernia (CDH) is an anomaly of the cardiopulmonary system maturation process that results from both a global embryopathy and concomitant mechanical compression of the cardiopulmonary system from the abdominal contents during fetal maturation. This results in pulmonary hypertension, pulmonary hypoplasia, and cardiac dysfunction, requiring intense critical care management. The patients with highest risk CDH are the most challenging, resource-intensive, and bear most of the mortality. Advances at the basic, translational, and clinical research levels are leading to novel therapies and management strategies for complex, high-risk CDH. Our objective is to review novel approaches in thinking and management for the most complex and high-risk CDH patients. These include patients with prenatal and postnatal indicators of high-risk defects, those receiving extracorporeal life support (ECLS), and those with concomitant anomalies such as complex cardiac and/or chromosomal abnormalities.
Methods:
PubMed was searched in late 2022 and early 2023 to identify relevant evidence. Search terms included congenital diaphragmatic hernia (CDH)", "extracorporeal life support (ECLS)", "pulmonary hypertension", "dual-hit hypothesis", "risk reduction", "cardiac/chromosomal anomalies", and "novel therapies". We included trials, multicenter studies (prospective and retrospective), single-center reports, and review articles/expert opinion.
Key Content And Findings:
CDH is a congenital anomaly of the cardiopulmonary and diaphragmatic systems that represents a spectrum of disease. High-risk or complex patients are defined by prenatal/postnatal risk stratification, receipt of ECLS, and/or having concomitant anomalies, representing the severe end of that spectrum. Overall survival of high-risk CDH is about 50% and comprises the vast majority of mortality, mandating special emphasis. The development of risk-stratification processes, best practices or guidelines of management, and novel therapies is critical to optimize the care of these infants.
Conclusions:
CDH patients with high-risk disease remain a challenging subset of CDH patients. Increasing opportunities for survival are being realized with novel, investigational approaches.
