Complete Tracheal Rings and Congenital Diaphragmatic Hernia: A Case Series

To the Editor,

Complete tracheal rings are a well‐described congenital airway anomaly often diagnosed in early infancy due to severe respiratory symptoms. Diagnosis is made either via chest computed tomography (CT) or direct visualization with bronchoscopy. Congenital diaphragmatic hernias (CDH) are a separate, but equally well‐recognized anomaly. Depending on the type of diaphragmatic hernia, symptoms may be severe and present at birth or can present later in life. The latter is particularly true with anterior diaphragmatic (Morgagni) hernias, which are quite rare, and often cause less severe symptoms in infancy. Here we present two cases of infants presenting with complete tracheal rings early in life, with later diagnosis of anterior diaphragmatic hernia, an association that has not been described previously.

1. Patient 1

A term 2‐month‐old female infant presented to outpatient pulmonary clinic for evaluation of noisy breathing. She was evaluated by ENT prior to pulmonary appointment, with normal nasal flexible laryngoscopy. Symptoms included suprasternal and subcostal retractions, “high‐pitched” cough, and intermittent wheezing since birth. Initial exam was notable for tachypnea, with otherwise normal vital signs and appropriate weight gain. Lung exam was significant for intercostal retractions, without stridor or wheezing at rest. Baseline chest x‐ray showed possible tracheal narrowing and displacement (Figure 1), prompting further evaluation with chest CT with angiography. This revealed severe fixed narrowing of the intrathoracic trachea concerning for complete tracheal rings. She underwent rigid bronchoscopy at 3 months old, which confirmed diagnosis of complete tracheal rings. She was subsequently scheduled for complete surgical repair with slide tracheoplasty at 5 months old and discharged 7 days post‐operatively in room air.

Figure 1.

Chest x‐ray from patient 1 showing mildly hyperinflated lungs, with possible tracheal narrowing and displacement (arrow). [Color figure can be viewed at wileyonlinelibrary.com]

She re‐presented at 8 months old to the emergency department with vomiting. A follow up chest x‐ray was obtained to assess for possible aspiration pneumonia and showed a rounded density at the anterior right lung base. Repeat chest CT obtained for more definitive evaluation showed partial herniation of the liver into the chest via small anterior diaphragmatic defect, consistent with anterior CDH (Figure 2). In discussion with radiology, this finding had been present on previous chest x‐rays but was more prominent at presentation at 8 months of age. She ultimately underwent repair of her CDH at 14 months old and tolerated procedure well. She is clinically well after repair, without any baseline symptoms.

Figure 2.

Chest CT Angiography with contrast (patient 1). Coronal and axial views showing partial herniation of the liver into chest via a small anterior diaphragmatic defect (asterisk). [Color figure can be viewed at wileyonlinelibrary.com]

2. Patient 2

A 37‐week gestation male infant with confirmed Trisomy 21 was born via repeat Cesarean section and admitted to the NICU after birth due to respiratory distress and need for continuous positive airway pressure (CPAP). Due to difficulties weaning from CPAP, a chest CT was obtained on day of life 10 that showed diffusely narrowed and rounded trachea, suggestive of complete tracheal rings, along with findings consistent with pulmonary artery sling. Diagnosis of complete tracheal rings was confirmed with rigid bronchoscopy on day of life 13. Surgical repair was planned at 4–6 months of age. He was diagnosed with severe obstructive sleep apnea by polysomnography during NICU admission and was ultimately discharged at 3 months old in stable condition on nocturnal CPAP.

He re‐presented to the emergency department shortly after his NICU discharge at 4 months old with decreased oral intake and emesis. X‐ray imaging was obtained, revealing interval development of a loop of large bowel extending into the lower right hemithorax medially, concerning for congenital diaphragmatic hernia. Repeat chest CT showed a retrosternal, anterior diaphragmatic hernia containing small and large bowel, with mild mass effect on the right ventricle (Figure 3). He was managed supportively inpatient with combination of low‐ and high‐flow nasal cannula and nasogastric tube feeds and ultimately underwent surgical repair of complete tracheal rings, pulmonary artery sling, and diaphragmatic hernia concurrently at 6 months of age. He was cannulated to VV‐ECMO at time of repair and ultimately decannulated 1 week post‐operatively. Repeat polysomnogram prior to discharge demonstrated marked improvement in obstructive sleep apnea from severe to mild following surgical repair, adequately treated with supplemental oxygen. In the years since discharge, he has done well from a cardiac and pulmonary standpoint, without residual obstructive sleep apnea on most recent polysomnogram.

Figure 3.

Chest CT with contrast (patient 2). Coronal and axial views showing hernia of large and small intestine through retrosternal, anterior defect with mass effect on right ventricle (asterisk). [Color figure can be viewed at wileyonlinelibrary.com]

We present this case series to highlight the coexistence of complete tracheal rings and anterior diaphragmatic hernias, which represents an exceptionally rare combination of congenital anomalies. Individually, each anomaly is rare, with complete tracheal rings accounting for less than 1% of congenital airway stenosis, and Morgagni hernia comprising approximately 2%–5% of CDH [1, 2]. Both anomalies, however, can share associations with syndromic conditions such as Trisomy 21 and congenital cardiac malformations, suggesting a potential common developmental pathway. Embryologically, complete tracheal rings result from abnormal differentiation of tracheal cartilage during foregut development, whereas Morgagni hernia arises from incomplete fusion of the septum transversum and costal diaphragmatic components [1, 2]. These processes occur during overlapping periods of embryogenesis, which may explain their occasional concurrence in syndromic contexts. A thorough review of the literature revealed no previously reported cases describing both conditions in the same patient, underscoring the uniqueness of this presentation. While other case reports have demonstrated the rare relationship of complete tracheal rings with the more common left‐sided or Bochdalek‐type CDH, the association with an anterior Morgagni‐type CDH has not been described previously [3, 4, 5].

From a clinical perspective, this association poses unique diagnostic and management challenges. Complete tracheal rings often present with airway symptoms requiring early intervention, while Morgagni hernia may remain asymptomatic or manifest later with gastrointestinal or respiratory symptoms. In both cases presented here, complete tracheal rings were identified first. Both later presented with GI‐related symptoms, with imaging showing findings consistent with Morgagni hernia. Recognition of both conditions, however, can be critical for surgical planning, as repair strategies may need to address airway reconstruction and diaphragmatic closure in a single operative setting or staged approach [1]. Multidisciplinary coordination is essential to optimize outcomes. Given the absence of prior reports, this case series contributes novel insight into the spectrum of congenital anomalies and highlights the importance of thorough imaging and genetic evaluation in patients with complex presentations. Future studies and case registries may help clarify whether this association is coincidental or reflects a broader pattern.

Author Contributions

Brooke Gustafson: conceptualization, writing – original draft, visualization, resources. Bailey Young: writing – review and editing, conceptualization.

Funding

The authors have nothing to report.

Ethics Statement

This case report was reviewed by Institutional Review Board (IRB) at Nationwide Children's Hospital and falls into the Exempt Categories as defined by 45 CFR 46. Review the IRB Office's WORKSHEET: Exemption (HRP‐312). Parents gave verbal consent for series to be written and submitted.

Conflicts of Interest

The authors declare no conflicts of interest.

Data Availability Statement

Data sharing not applicable to this article as no datasets were generated or analysed during the current study.