Airway compression by major aortopulmonary collaterals with 22q11 deletion

Area of Science:

• Pediatric Cardiology
• Thoracic Surgery
• Medical Genetics

Background:

• 22q11 deletion syndrome is associated with a wide spectrum of congenital anomalies, including cardiac and airway issues.
• Congenital heart defects, such as pulmonary atresia and ventricular septal defect, can present with complex airway compressions.
• Tracheobronchomalacia, often seen in 22q11 deletion, can exacerbate airway obstruction.

Observation:

• A male infant with 22q11 deletion presented with recurrent hypoxic choking episodes from 4 months of age.
• He had multiple congenital anomalies: pulmonary atresia, ventricular septal defect, absent central pulmonary artery, tracheobronchomalacia, and an aberrant right tracheal bronchus.
• Airway compression was noted, caused by a posteriorly displaced ascending aorta, right aortic arch, aberrant left subclavian artery, and major aortopulmonary collateral arteries.

Findings:

• A single-stage surgical intervention involving unifocalization and intracardiac repair was performed.
• Aortopexy was included in the surgical procedure.
• Postoperatively, the patient experienced complete resolution of respiratory distress and heart failure.

Implications:

• This case highlights the critical interplay between complex congenital heart disease and tracheobronchial anomalies in 22q11 deletion syndrome.
• Combined surgical repair, including aortopexy, can effectively manage severe airway obstruction and associated cardiorespiratory compromise.
• Early diagnosis and multidisciplinary management are crucial for improving outcomes in infants with these complex conditions.