Children with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals (TOF/MAPCAs) are at risk for post-operative respiratory complications after undergoing unifocalisation surgery. Thus, we assessed and further defined the incidence of airway abnormalities in our series of over 500 children with TOF/MAPCAs as determined by direct laryngoscopy, chest computed tomography (CT), and/or bronchoscopy.

The medical records of all patients with TOF/MAPCAs who underwent unifocalisation or pulmonary artery reconstruction surgery from March, 2002 to June, 2018 were reviewed. Anaesthesia records, peri-operative bronchoscopy, and/or chest CT reports were reviewed to assess for diagnoses of abnormal or difficult airway. Associations between chromosomal anomalies and airway abnormalities – difficult anaesthetic airway, bronchoscopy, and/or CT findings – were defined.

Of the 564 patients with TOF/MAPCAs who underwent unifocalisation or pulmonary artery reconstruction surgery at our institution, 211 (37%) had a documented chromosome 22q11 microdeletion and 28 (5%) had a difficult airway/intubation reported at the time of surgery. Chest CT and/or peri-operative bronchoscopy were performed in 234 (41%) of these patients. Abnormalities related to malacia or compression were common. In total 35 patients had both CT and bronchoscopy within 3 months of each other, with concordant findings in 32 (91%) and partially concordant findings in the other 3.

This is the largest series of detailed airway findings (direct laryngoscopy, CT, and bronchoscopy) in TOF/MAPCAS patients. Although these findings are specific to an at-risk population for airway abnormalities, they support the utility of CT and /or bronchoscopy in detecting airway abnormalities in patients with TOF/MAPCAs.

The purpose of this study was to clarify the clinical characteristics of interruption of the aortic arch associated with chromosome 22q11 deletion.

About half of patients with interruption of the aortic arch between the left common carotid and the left subclavian artery have deletion of chromosome 22q11.

In total, 20 patients with interruption of the aortic arch were studied with fluorescence in situ hybridization using peripheral lymphocytes and a DiGeorge syndrome chromosomal probe (Oncor N25). Cardiovascular anomalies in these patients were diagnosed by cross-sectional echocardiography and angiocardiography, and were confirmed at intracardiac repair.

Of 13 patients with interruption between the left common carotid artery and the left subclavian artery, seven had the deletion. All 7 also showed thymic hypoplasia and hypocalcemia, together with a nasal voice and peculiar facies. Six of the seven patients had complete deficiency of the muscular outlet septum, with the defect extending to the perimembranous area. Such complete absence of the muscular outlet septum was not present in any of the patients without the deletion.

Interruption of the aortic arch between the left common carotid and the left subclavian artery, absence of the thymus, and complete absence of the muscular outlet septum, were characteristic in Japanese patients with interruption of the aortic arch associated with deletion of chromosome 22q11.