DiGeorge syndrome - NYSORA

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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

Definition and mechanisms

  • 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

Signs, symptoms, and complications

  • 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)

Pathophysiology

DiGeorge syndrome, abnormal pharyngeal arch, hypoplastic thymus, aplastic thymus, craniofacial malformations, cleft palate, tracheomalacia, infection, T-cells, lymphopenia, autoimmunity, abnormal conotruncus development, hypoplastic parathyroid glands, hypocalcemia, seizures, congenital heart defects, tetralogy of Fallot, ventricular septal defect, truncus arteriosus

Treatment

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 

Anesthesia considerations

  • Airway
    • Difficult airway
      • Small mouth opening, retrognathia, micrognathia
      • Cleft palate, velopharyngeal insufficiency: Avoid nasal intubation
    • Aspiration risk 
      • Pharyngeal insufficiency, GERD
  • Breathing
  • Circulation
    • Conotruncal anomalies 
    • Long QT from hypocalcemia
  • Disability
    • Developmental delay, behavioral issues
    • Tetany and seizures from hypocalcemia
  • Genitourinary
  • Immunodeficiency
    • Thymic hypoplasia: Recurrent infections; aseptic technique needed
    • Thymic aplasia: Severe combined immunodeficiency (SCID)
  • Musculoskeletal

Management

DiGeorge syndrome, management, preoperative, intraoperative, postoperative, cardiac evaluation, congenital heart disease, ECG, echocardiography, cyanosis, dyspnea, immune function, thymus hypoplasia, infections, immunodeficiency, total blood count, calcium, hypocalcemia, OSA, transfusion, QT prolongation, arrhythmia, irradiated blood, aseptic, difficult laryngoscopy, difficult endotracheal intubation, micrognathia, retrognathia, CPAP

Keep in mind

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

Suggested reading

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