Embryology and pathophysiology of diaphragmatic hernia are important components of perinatal management and surgical treatment of fetuses and newborns with this critical pathology
DOI:
https://doi.org/10.15574/PS.2026.1(90).101110Keywords:
congenital malformation, congenital diaphragmatic hernia, diaphragmatic defect, lung hypoplasia, pulmonary hypertension, pathophysiology, neonatesAbstract
The study of the embryogenesis of the diaphragm and lungs in normal conditions and in congenital diaphragmatic hernia (CDH) is of great importance for understanding the pathogenesis of this disease and improving the treatment of neonates with this critical developmental defect.
Aim - to analyze the features of diaphragm and lung embryogenesis in normal conditions and in CDH, as well as the mechanisms of pulmonary hypertension development in newborns.
The main stages of diaphragm formation were reviewed, including the development of the transverse septum, pleuroperitoneal folds, migration of myogenic precursor cells, and formation of the phrenic nerve. Abnormal embryogenesis leading to different types of CDH was analyzed, with particular attention to the role of genetic factors, defects in pleuroperitoneal folds, the transverse septum, and impaired myoblast migration. Normal lung development from the embryonic stage to alveolarization was described, along with the molecular mechanisms regulating this process. Special attention was given to CDH pathophysiology, particularly pulmonary hypoplasia, impaired alveolarization, and reduced gas exchange surface area. Mechanisms of pulmonary hypertension were analyzed, including pulmonary vascular remodeling, impaired vasoreactivity, and underdevelopment of the pulmonary vascular bed. Data from experimental animal models and clinical observations were summarized to explain the relationship between diaphragmatic defect, lung hypoplasia, and pulmonary hypertension.
Conclusions. The study of diaphragm embryogenesis allows a better understanding of the mechanisms underlying CDH formation. Despite the identification of numerous genes associated with diaphragmatic defects, the pathogenesis of CDH remains incompletely understood. The relationship between impaired lung development and diaphragmatic defects requires further investigation. Understanding the mechanisms of pulmonary hypoplasia and pulmonary hypertension is crucial for developing new therapeutic approaches and improving outcomes in neonates with CDH.
Author declares no conflict of interest.
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