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A 5-year-old boy with a history of microdeletion of 22q11.2 presents for pharyngoplasty to treat velopharyngeal insufficiency. He has had surgery to correct a cleft palate in the past, and had tetralogy of Fallot, which was repaired. He has small pulmonary arteries and has had a stent placed in the left pulmonary artery. He also has developmental delay and chronic nasal congestion and cough. His medications include a nasal allergy spray, montelukast sodium, and albuterol inhalers.




Patients with microdeletion of 22q11.2, a segment of chromosome 22, will present with different phenotypes, and these may include syndromes previously described as DiGeorge syndrome, velocardiofacial syndrome, or CATCH-22. They may present with hypocalcemia in the neonatal period, potentially with seizures. They have a compromised immune system and are susceptible to fungal and viral infections. They often have conotruncal cardiac defects (truncus arteriosus, tetralogy of Fallot, or arch anomalies). Our patient had had a tetralogy of Fallot repair, but the extent of his residual disease should be evaluated. Specifically, on echocardiography, we want to look for a residual gradient across the right ventricle outflow tract, any pulmonary valve anomalies, and signs of pulmonary hypertension.




  • Micrognathia and retrognathia may make laryngoscopy and endotracheal intubation difficult.

  • Careful aseptic technique is required, as these patients are at increased risk of infection.

  • Calcium levels should be checked, specifically in the neonatal period.

  • Blood products should be irradiated to avoid graft-versus-host reaction.

  • Ensure that the patient is fully awake before extubation. Sometimes surgery is performed in a slight Trendelenburg position, and this may make airway swelling worse. There is a potential for airway obstruction postextubation, and using an oral airway may be inadvisable because of the risk of injuring the recent repair.




Observe patients carefully to ensure that they are maintaining adequate airways, even during sleep. Ensure a return to baseline status and adequate oral intake before discharge.


DOs and DON’Ts

  • ✓ Do ensure that you have a recent cardiac evaluation in patients with residual congenital cardiac disease.

  • ✓ Do use a careful aseptic technique.

  • ✓ Do be ready for a difficult intubation.

  • ✓ Do check calcium levels.




Genetic counseling may be very difficult in light of the varying degrees of penetrance of this genetic abnormality.




Because of different phenotypes, it is now well known that DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, Takao syndrome, and isolated conotruncal cardiac defects may all be forms of 22q11.2 deletion syndrome. This may be the second most common syndrome in children, after Down syndrome.

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