DiGeorge syndrome

Learning objectives

Define DiGeorge syndrome
Describe the signs, symptoms, and complications associated with DiGeorge syndrome
Anesthetic management of a patient with DiGeorge syndrome

DiGeorge syndrome, or 22q11.2 deletion syndrome, is a syndrome caused by a heterozygous microdeletion on the long arm of chromosome 22
This deletion results in the poor development of several body systems
90% of cases occur due to a new mutation during early development, while 10% are inherited (autosomal dominant)
Memory aid: CATCH-22
- Cyanotic congenital heart defect
- Abnormal facies
- Thymic aplasia or hypoplasia
- Cognitive impairment, cleft palate
- Hypoparathyroidism, hypocalcemia
- 22q11.2 deletion

Congenital heart disease (40%): Particularly conotruncal malformations (e.g., interrupted aortic arch, persistent truncus arteriosus, tetralogy of Fallot, and ventricular septal defect)
Cyanosis
Palatal abnormalities (50%): Velopharyngeal incompetence, submucosal cleft palate, and cleft palate with or without cleft lip
Characteristic facial features (including hypertelorism): Underdeveloped chin (micrognathia and retrognathia), low-set ears, wide-set eyes, or a narrow groove in the upper lip
Frequent infections due to thymic aplasia or hypoplasia
Developmental delay
Learning difficulties (90%) including cognitive deficits, attention deficit disorders
Hypocalcemia (50%) due to hypoparathyroidism
Significant feeding problems (30%), gastroesophageal reflux disease (GERD), and failure to thrive
Renal anomalies (37%)
Hearing loss
Laryngotracheoesophageal anomalies
Growth hormone deficiency
Autoimmune disorders (e.g., rheumatoid arthritis or Graves disease)
Immune disorders due to reduced T-cell numbers
Seizures (with or without hypocalcemia)
Skeletal abnormalities (e.g., scoliosis)
Psychiatric disorders and behavioral problems (e.g., schizophrenia develops in 25-30% by adulthood, ADHD, autism spectrum disorder)

There is no cure for DiGeorge syndrome, but certain individual features are treatable using standard treatments

Hypoparathyroidism: Calcium and vitamin D supplements
Congenital heart defects: Surgical repair soon after birth to repair the defect and improve the supply of oxygen-rich blood
Limited thymus gland function: Infections (e.g., colds and ear infections) are generally treated as they would be in any child; normal schedule of vaccines
Severe thymus gland function: Transplant of thymus tissue, specialized bone marrow, or specialized disease-fighting blood cells
Cleft palate: Surgical repair
Overall development: Speech therapy, occupational therapy, and developmental therapy

Airway
- Difficult airway
  - Small mouth opening, retrognathia, micrognathia
  - Cleft palate, velopharyngeal insufficiency: Avoid nasal intubation
- Aspiration risk
  - Pharyngeal insufficiency, GERD
Breathing
- Nasal obstruction
- Obstructive sleep apnea (OSA)
Circulation
- Conotruncal anomalies
- Long QT from hypocalcemia
Disability
- Developmental delay, behavioral issues
- Tetany and seizures from hypocalcemia
Genitourinary
- Hypocalcemia from hypoparathyroidism (especially in newborns)
- Renal anomalies
Immunodeficiency
- Thymic hypoplasia: Recurrent infections; aseptic technique needed
- Thymic aplasia: Severe combined immunodeficiency (SCID)
Musculoskeletal
- Scoliosis

Perform a recent cardiac evaluation in patients with residual congenital heart disease
Anticipate a difficult intubation
Use a careful aseptic technique
Check calcium levels