Rare Lung Diseases: Congenital Malformations.

Area of Science:

• Pediatric Surgery
• Thoracic Surgery
• Medical Imaging

Background:

• Congenital thoracic malformations (CTMs) are increasingly detected via antenatal ultrasound.
• Inconsistent terminology and lack of evidence hinder rational management strategies for CTMs.
• Antenatally diagnosed CTMs typically do not require immediate intervention, with urgent postnatal treatment reserved for symptomatic cases.

Purpose of the Study:

• To present a simplified clinical classification of CTMs.
• To describe age-related presentations and differential diagnoses of cystic thoracic masses.
• To review current evidence and discuss management dilemmas for antenatally diagnosed CTMs.

Main Methods:

• Review of existing literature on congenital thoracic malformations.
• Analysis of age-related presentations and differential diagnoses.
• Discussion of diagnostic imaging, surgical intervention, and malignant transformation risks.

Main Results:

• A simplified clinical classification for CTMs is proposed.
• Differential diagnoses for antenatal and postnatal cystic thoracic masses are outlined.
• Management of asymptomatic CTMs remains a challenge, with unclear optimal timing for imaging and surgery.

Conclusions:

• Evidence is insufficient for standardized management of antenatally diagnosed CTMs.
• The risk of malignant change in CTMs is uncertain, complicating risk stratification.
• Further research is needed to establish evidence-based guidelines for CTM management, particularly for asymptomatic infants.