Protective Effects of Bronchopulmonary Sequestration (BPS) on the Prognosis of Neonates with Congenital Diaphragmatic Hernia (CDH)

Abstract

Background: Congenital diaphragmatic hernia (CDH) and bronchopulmonary sequestration (BPS) are rare congenital anomalies that can coexist, with studies suggesting that 25-40% of CDH cases are accompanied by BPS. The association between CDH and BPS is thought to arise from embryological disruptions during early gestation, with BPS potentially serving as an anatomical barrier. This study aimed to evaluate the incidence, clinical characteristics, and outcomes of patients with concurrent CDH and BPS at a single institution to improve therapeutic approaches.

Methods: This study retrospectively analyzed the medical records of neonates diagnosed and treated for BPS concurrent with CDH at Asan Medical Center from 1990 to 2021, identifying 15 cases (3.0%) among 493 CDH patients. Comprehensive data on demographics, treatments, outcomes, diagnostic imaging, and pathological findings were collected and analyzed to explore disease characteristics and evaluate clinical outcomes.

Results: This study analyzed 15 neonates with concurrent BPS and CDH, with a male predominance (10:5) and an average gestational age of 37.8 weeks, of whom 80% were diagnosed prenatally. CDH repair was performed at a median of 8 days, with no acute repair-related complications observed. In some cases, additional procedures such as hiatal hernia or re-do CDH repair was required, and BPS resection was performed either simultaneous or delayed. Follow-up revealed that most patients grew within the 50th percentile range, with thoracoscopic approaches feasible in over half of the cases, and recurrence-free outcomes achieved in those treated for hiatal hernia or BPS.

Discussions: No statistical difference in CDH severity was observed between the CDH and CDH + BPS groups, and the clinical outcome of CDH + BPS was better, although the high prevalence of sac-associated CDH types may have confounded the results. Our findings provide additional evidence supporting the protective effect of BPS. However, they also highlight the need for further studies in larger populations to clarify the causal relationship.

Keywords: Bronchopulmonary sequestration; Congenital diaphragmatic hernia; Diagnosis; Outcome; Surgery.

Fig. 1

Surgical images of two patients (Patients 7 and 10) with hiatal hernial progression following CDH repair (a), (b): Patient 7 underwent thoracoscopic repair for Type B CDH with sac. Hiatal hernia was diagnosed 587 days postoperatively, accompanied by severe reflux symptoms; laparoscopic hiatal hernia repair was planned accordingly. Due to the large hernial defect, open conversion was performed along with fundoplication. The patient has remained symptom-free since the surgery. a Shows an image taken immediately after CDH repair, and (b) demonstrates the hernial defect. c, d: Patient 10 underwent thoracoscopic repair for Type B CDH with sac. (c) Shows the CDH lesion with the sac before repair, and (d) illustrates the defect in the hiatus observed during laparoscopic hiatal hernia repair. In the present case, the defect was closed and fixed, leading to resolution of reflux symptoms without recurrence. CDH: congenital diaphragmatic hernia

Fig. 2

Imaging findings of two patients (Patients 4 and 13) who underwent imaging follow-up without resection In the most recent chest CT scan of patient 4 (a 13-year-old boy), the previously observed left juxtadiaphragmatic extralobar pulmonary sequestration was smaller than before (a, arrow). The feeding artery supplied by the celiac trunk showed no noticeable changes compared with the previous scan. b, arrow) Follow-up CT scan of a 3-year-old boy showing a partially expanded sequestered lung in the left lower hemithorax (c, arrow). The hyperlucent expanded area indicates the presence of a CPAM and a hybrid lesion, revealing the characteristics of an interlobar-type pulmonary sequestration supplied by the celiac axis, and drained by the inferior pulmonary vein (Patient 13). The soft tissue in the infradiaphragmatic area previously observed on ultrasonography before surgery is now thought to represent sequestration near the heart in the supradiaphragmatic area (d, asterisk). *CT: computed tomography; CPAM: congenital pulmonary airway malformation

Fig. 3

Representative pictures of a patient with CPAM concurrent with CDH (Patient 14) (a) On a CT scan performed at 293 days of age, the suspected CPAM lesion measured 42.2 × 34.7 mm; at this point, the patient was healthy and asymptomatic, without respiratory distress. b On a CT scan performed at 639 days of age, the suspected CPAM lesion measured 50.0 × 38.5 mm, showing no significant size change. As the patient remained stable and asymptomatic, surgery was performed at 674 days of age. c Gross pathology of the specimen. Pathologic findings were consistent with anomalous cystic lung, confirmed as congenital pulmonary airway malformation (CPAM), type 2. d The final follow-up chest X-ray showed no abnormalities. The patient has been doing well postoperatively, without any evidence of complications or pulmonary dysfunction. *CT: computed tomography; CPAM: congenital pulmonary airway malformation