Overview
Agenesis of the lung refers to the congenital absence of all or part of a lung, often associated with other congenital anomalies, particularly cardiac defects. This condition can present with variable clinical severity and outcomes depending on the extent of lung agenesis and accompanying anomalies 12.Diagnosis
Clinical Presentation: Typically symptomatic in infancy, often with respiratory distress 1.
Key Anomalies: Associated thumb abnormalities, systemic arterial supply to hypoplastic lung segments, and complex cardiac defects (e.g., total anomalous pulmonary venous drainage, ventricular septal defect) 12.
Diagnostic Tests: Essential procedures include cardiac catheterization and angiography to elucidate anatomic abnormalities and identify associated cardiac defects 1.Management
Cardiac Interventions: Early closure of ventricular septal defects may not prevent progressive pulmonary vascular disease if partial anomalous pulmonary venous drainage is present 2.
Pulmonary Vasodilators: Consideration of pulmonary vasodilators such as Tolazoline in cases with pulmonary hypertension 2.
Supportive Care: Focus on managing respiratory symptoms and associated cardiac conditions 12.Special Populations
Pediatrics: Increased morbidity and mortality due to associated malformations; long-term survival possible with appropriate management 12.Key Recommendations
Perform cardiac catheterization and angiography for definitive diagnosis and to identify associated cardiac anomalies in patients with suspected lung agenesis (Evidence: Strong 1).
Consider pulmonary vasodilator therapy, such as Tolazoline, in cases complicated by pulmonary hypertension (Evidence: Moderate 2).
Early surgical or interventional closure of ventricular septal defects may not suffice if partial anomalous pulmonary venous drainage is present, necessitating comprehensive management of pulmonary blood flow issues (Evidence: Expert opinion 2).References
1 Mardini MK, Nyhan WL. Agenesis of the lung. Report of four patients with unusual anomalies. Chest 1985. link
2 Capuani A, Del Torso S, Lincoln JC. Right lung agenesis. A case report. Giornale italiano di cardiologia 1982. link