CHARGE Syndrome
Background
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A genetic syndrome with the CHD7 gene on chromosome 8 most implicated. Acronym stands for:
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C: Coloboma
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H: Heart Defects. Most common are tetralogy of Fallot (33%), VSD (ventricular septal defect), AV (atriventricular) canal defect, and aortic arch anomalies.
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A: Atresia choanae
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R: Retarded growth & development
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G: Genital hypoplasia
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E: Ear anomalies/deafness
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Considerations
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Pediatric patient considerations
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Difficult airway management & aspiration risk:
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Micrognathia may make endotracheal intubation difficult
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Patients may have Choanal atresia & laryngomalacia
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Severe GERD & aspiration risk
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Swallowing & feeding problems
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Congenital heart disease considerations
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Most common are Tetralogy of Fallot (33%), VSD (ventricular septal defect), AV (atriventricular) canal defect, and aortic arch anomalies
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