Congenital thoracic disorders
Congenital lung lesions
[edit | edit source]- Bilateral agenesis of lungs
- Fatal
- Unilateral agenesis of lungs
- More common on left (70%)
- >2:1 male to female ratio
- Hypoplasia of the lungs
- Occurs with interference to the development of the alveolar system during the last 2 months of gestation
- Most frequently a/w Bochdalek hernia, but also oligohydramnios, prune-belly syndrome, scimitar syndrome, and dextrocardia
- Hyaline membrane disease (or infant respiratory distress syndrome)
- Frequent in premature infants and diabetic mothers
- Immature surfactant system, leading to congested lungs with a deep purple gross appearance
- Frequently leads to pneumothorax
Congenital cystic lesions
[edit | edit source]- Generally occur as a result of separation of the pulmonary remnants from airway branching
- May require resection
- Bronchogenic cyst
- Arises from a tracheal of bronchial diverticulum, which becomes completely separated from the trachea
- Symptoms may arise from compression of adjacent airways and from infection
- Seen on CT as a homogenous, well-circumscribed mass adjacent to the trachea
- Infected cysts have an air-fluid level
- Excise when symptomatic
- Lobar emphysema
- Intrinsic or extrinsic airway obstruction leading to the creation of a 'ball-valve' mechanism and subsequent air trapping
- Rarely occurs after six months of age
- Treatment is lobectomy
- Congenital pulmonary airway malformations (CPAM)
- Result from abnormalities in branching morphogenesis of the lung
- Stocker classification from 0-4
- Lung has the appearance of Swiss cheese and feels like a large rubbery mass
- Strongly associated with malignancy, in particular pleuropulmonary blastoma
- Bronchopulmonary sequestration
- An area of embryonic lung tissue, separate from the tracheobronchial tree, which receives blood supply from an anomalous systemic artery from the aorta, not the pulmonary artery
- Occurs secondary to an accessory lung bud, caudal to the normal lung
- Cystic fibrosis
- Autosomal recessive
- Excessively thick mucus leads to recurrent infections, bronchitis and bronchiectasis
- Pneumothorax may occur secondary to air trapping
- Lung failure is the most frequent cause of death
- Consider bilateral lung transplantation when the disease rapidly progresses and the remaining pulmonary reserve is low
Congenital abnormalities of the trachea and bronchi
[edit | edit source]- Oesophageal atresia with trache-oesophageal fistula
- Separate topic
- Bronchial atresia
- Lung tissue distal to the atresia expands and becomes emphysematous as a result of air entry through collateral airways/pores
- No exit for air or mucus - emphysema from air trapping, or mucocoele may result
- Most frequently involves left upper lobe
- Tracheal agenesis
- Fatal
- Tracheal stenosis
- Separate topic
- Tracheomalacia
- Marked variation of tracheal lumen with inspiration and expiration (defined by collapse >70% of lumen)
- Stent placement may be required
- Most often actually seen in adults with COPD
Congenital vascular disorders
[edit | edit source]- Scimitar syndrome
- Hypoplastic right lung with drainage of the pulmonary vein to the IVC
- Pulmonary AVMs
- Bypass the pulmonary capillary bed, resulting in a right-to-left shunt
- One third have hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
- Consider in the differential for any patient unexplained haemoptysis after routine imaging and bronchoscopy
- Pulmonary vascular sling
- Anomalous or aberrant left pulmonary artery, which causes airway obstruction, and is associated with other abnormalities
- Vascular rings
- Double aortic arch, etc