CHARGE Syndrome

 

 

Background 

  • A genetic syndrome with the CHD7 gene on chromosome 8 most implicated.  Acronym stands for: ​

    • C: Coloboma 

    • H: Heart Defects.  Most common are tetralogy of Fallot (33%), VSD (ventricular septal defect), AV (atriventricular) canal defect, and aortic arch anomalies.

    • A: Atresia choanae

    • R: Retarded growth & development 

    • G: Genital hypoplasia 

    • E: Ear anomalies/deafness 

 

Considerations

  • Pediatric patient considerations 

  • Difficult airway management & aspiration risk: 

    • Micrognathia may make endotracheal intubation difficult

    • Patients may have Choanal atresia & laryngomalacia

    • Severe GERD & aspiration risk 

    • Swallowing & feeding problems 

  • Congenital heart disease considerations  

    • Most common are Tetralogy of Fallot (33%), VSD (ventricular septal defect), AV (atriventricular) canal defect, and aortic arch anomalies