Congenital Pulmonary Airway Malformations in Children: Beyond the Pulmonary Cystic Lesion Is There Really an Associated Laryngo-Tracheal Abnormality?

backgroundCongenital pulmonary airway malformations (CPAMs) are rare developmental anomalies of the lower respiratory tract. Although their pulmonary and postnatal respiratory implications are well recognized, the possible coexistence of laryngotracheal abnormalities remains poorly investigated. Given the developmental continuity between the upper and lower airways, clarifying this relationship may have diagnostic, embryological, and clinical relevance.

objectiveTo map the available evidence on laryngotracheal anomalies or dimensional alterations of the upper airway in patients with CPAM and to identify current knowledge gaps.

methodsA scoping review was conducted according to Joanna Briggs Institute methodology and reported following PRISMA-ScR guidelines. PubMed, Scopus, and Web of Science were systematically searched without time restrictions, using terms related to CPAM, congenital lung malformations, laryngeal anomalies, tracheal anomalies, tracheomalacia, bronchomalacia, and prenatal or postnatal airway assessment. Studies reporting original data on pediatric patients with CPAM and associated laryngotracheal findings, imaging parameters, or relevant mechanistic evidence were included.

resultsThe search identified 4,559 records. After duplicate and eligibility screening, six studies were included: two case reports, one case series, three original articles. The available evidence was limited and heterogeneous. Reported findings included tracheoesophageal fistula, tracheomalacia, and tracheobronchomalacia, mostly described incidentally. One case-control prenatal ultrasound study reported significantly smaller fetal upper airway dimensions in fetuses with congenital thoracic anomalies, including CPAM, compared with controls. Additional indirect evidence from fetal MRI and molecular studies suggested possible diagnostic and developmental overlap but did not establish a causal association.

conclusionsCurrent evidence does not demonstrate a definitive association between CPAM and laryngotracheal anomalies. Existing data remain sparse, heterogeneous, and mainly hypothesis-generating. Future prospective studies using standardized prenatal and postnatal airway assessment, high-resolution imaging, endoscopy when clinically indicated, and molecular profiling are needed to clarify prevalence, mechanisms, and clinical relevance.