CHARGE syndrome

Learning objectives

Describe CHARGE syndrome
Outline the major, minor, and occasional criteria to diagnose CHARGE syndrome
Anesthetic management of a pediatric patient with CHARGE syndrome

Definition and mechanisms

CHARGE syndrome is a rare genetic syndrome with a known pattern of features
- C: Coloboma of the eye
- H: Heart defects (e.g., most common tetralogy of Fallot, ventricular septal defect, atrioventricular canal defect, and aortic arch anomalies)
- A: Atresia of the nasal choanae
- R: Retardation of growth and development
- G: Genital and/or urinary abnormalities (e.g., hypogonadism)
- E: Ear abnormalities and deafness
These features are no longer used in making the diagnosis

Diagnosis, signs and symptoms, and complications

Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome

Features of CHARGE syndrome	Later childhood/adolescent complications
Major
Coloboma of the eye	Photophobia, retinal detachment, corneal abrasions
Choanal atresia/stenosis	Facial growth problems, recurrent closure and resurgeries, unilateral nasal discharge
Cranial nerve anomalies	Feeding/swallowing problems, gastroesophageal reflux, hiatus hernia
Abnormalities of the inner, middle, or external ear	Progressive hearing loss, chronic middle ear infections, vestibular problems affecting balance and/or motor skills
Minor
Cardiovascular malformations: Tetralogy of Fallot, ventricular septal defect, atriventricular canal defect, and aortic arch anomalies	Arrhythmias, angina, further cardiac surgeries
Genital hypoplasia or delayed pubertal development: Micropenis and cryptorchidism (males), hypoplastic labia (females)	Pubertal delay, hormone replacement, fertility (unsure), hypogonadotrophic hypogonadism, osteoporosis
Cleft lip and/or palate	Cosmetic concerns, self-image
Tracheoesophageal defects: Tracheoesophageal fistula	Reflux esophagitis, feeding/swallowing problems
Distinctive CHARGE facies: Square face, broad forehead, arched eyebrows, large eyes, droopy eyelids, small mouth and chin, asymmetrical face	Cosmetic concerns, self-image
Growth retardation: Short stature	Growth hormone replacement, obesity
Developmental delay: Delayed motor milestones, language delay, mental retardation	Educational, behavioral, social adjustment issues, autistic-like problems, obsessive compulsive disorders, ADHD
Occasional
Renal anomalies: Duplex system, vesicoureteric reflux	Renal failure
Spinal anomalies: Scoliosis, osteoporosis	Scoliosis
Hand anomalies; Fifth finger clinodactyly, camptodactyly, and cutaneous syndactyly	Fine motor problems, cosmetic concern
Neck/shoulder anomalies: Sloping, Sprengel’s deformity, kyphosis	Self-image problem
Immune system disorders	Recurrent infections

Causes

A genetic mutation of the CHD7 gene on chromosome 8, autosomal dominant inheritance
In rare cases, patients do not have a CHD7 mutation or have a mutation of another gene in their DNA

Treatment

Treatment is unique per patient and focuses on improving symptoms

Surgery to repair cleft lip or palate, cardiovascular problems, or atresia
Occupational, physical, or speech therapy
Feeding tube to help with swallowing
Ventilator or CPAP to improve breathing difficulties or obstructive sleep apnea
Hearing aids or implants to improve hearing loss
Supportive education to improve cognitive development
Medicine to treat specific symptoms

Management

Keep in mind

Do have a formal cardiac evaluation for patients with choanal atresia
Do plan an anesthetic that results in calm, spontaneous breathing with a patent airway after the procedure
Do not be surprised by difficult intubation and difficult mask ventilation