Congenital thoracic malformations in pediatric patients: two decades of experience

Congenital thoracic malformations constitute a heterogeneous group of developmental disorders, involving lung parenchyma, arterial supply, and venous drainage.(1) Their etiology is embryologic, and their clinical presentation and severity vary according to the degree of pulmonary involvement and their location in the thoracic cavity.(2) They can be asymptomatic—their diagnosis being based on incidental chest X-ray findings—or cause early and severe respiratory symptoms. (2,3) Although prenatal ultrasound has allowed intrauterine diagnosis of congenital thoracic malformations,(1,4) controversy remains regarding the nomenclature and treatment. Congenital thoracic malformations include pulmonary sequestration, congenital pulmonary airway malformations (formerly known as congenital cystic adenomatoid malformation), congenital lobar emphysema, bronchogenic cyst, congenital diaphragmatic hernia, diaphragmatic eventration, pulmonary vascular malformations, bronchial atresia, pulmonary hypoplasia, and pulmonary agenesis.(1) Chest X-rays can show localized hypertranslucency, cystic images, decreased volume in the right or left hemithorax, changes in the pulmonary vasculature, and condensation images. The objective of this letter is to report the clinical data and therapeutic management of patients with congenital thoracic malformations followed in the Pediatric Pulmonology Department of the Federal University of Bahia University Hospital, in the city of Salvador, Brazil, between 1991 and 2013. This was a retrospective observational study (case series) of 26 patients with congenital thoracic malformations diagnosed radiologically, surgically, or both. Each medical chart was systematically analyzed. The study was approved by the local research ethics committee. All patients had undergone chest X-rays. The presence of congenital thoracic malformations was confirmed by chest CT scans, in 24 children, and by contrast-enhanced examination of the esophagus, stomach, and duodenum, in 2 children. The following malformations were found: congenital lobar emphysema, in 6; pulmonary agenesis, in 5; congenital pulmonary airway malformations, in 4; pulmonary hypoplasia, in 3; cystic disease, in 2; congenital diaphragmatic hernia, in 2; bronchogenic cyst, in 1; lobar agenesis, in 1; pulmonary vascular malformations, in 1; and diaphragmatic eventration, in 1. Pulmonary agenesis is very rare, having occurred in 5 patients; of those, 4 had right lung agenesis, which is consistent with the literature,(5) with only 1 asymptomatic child. None of the patients had been diagnosed with pulmonary sequestration. Of the 26 patients studied, 14 (53.8%) were male. All of the patients with congenital lobar emphysema were male, which is consistent with the literature.(6) Pulmonary agenesis and pulmonary hypoplasia were more common in female patients, which is inconsistent with the literature. Pulmonary agenesis was found in only 1 male patient.