This syndrome includes typical facies and cardiac
anomalies. Many other malformations can be associated (endocrine and
VCS Syndrome; Shprintzen Syndrome; Sedlacková
1:1800 to 1:5000 live births.
Autosomal dominant (de novo: 80% of cases).
Observed anomalies result from microdeletion on
Evocated in patients with typical facies (prominent nose
and retrognathia, cleft palate), cardiovascular defects, and mental
retardation. Proved by resolution banding and fluorescence in situ
hybridization, which can find the 22q11 microdeletion (karyotype study is
Clinical features also include multiple anomalies
overlapping those encountered in other 22q11 deletions. Patients have short
stature, overabundant hair, elongated face with mandible anomalies as in
Pierre Robin syndrome, malformed ears and eyes (inability to close the eyes,
narrow palpebral fissures, malformed retinal vessels, blue sclerae, retinal
colobomas, cataracts), and basilar impression. Intracranial lesions concern
white matter and vermis. Language is slow and behavior disorders are
observed. Immunologic and endocrine systems are often involved: adenoids,
tonsils, and thymus are absent or small. In many cases, hypothyroidism and
hypocalcemia can occur. Cardiovascular anomalies are frequent, including
right aortic arch, ventricular septal defect, tetralogy of Fallot, abnormal
internal carotid arteries, and left subclavian artery. Other clinical signs
supplement the disease: scoliosis, abnormal extremities, inguinal hernia,
and anal anomalies.
Evaluate patients for the possibility
of cardiopathy (clinical,
chest radiography, echocardiography) and airway (clinical,
radiographs). Perioperative laboratory investigations should include
calcemia, FT4, T3.
Direct laryngoscopy and tracheal
intubation can be extremely difficult because of orofacial deformations and
may require fiberoptic, laryngeal mask airway, or retrograde intubation.
Digitally guided intubation in prone position has been proposed for Robin
sequence and can be useful. Spontaneous ventilation should be preserved
until airway is secured and lung ventilation confirmed.
T-cell immunodeficiency requires strict aseptic
procedures and specific blood (irradiated). Spine and extremity deformities
need careful intraoperative position; regional anesthesia can be difficult
to realize. Central venous access can be dangerous because of carotid and
subclavian arteries malposition.
Avoid cardiodepressive drugs.
Prophylactic antibiotics must be considered in cases of cardiopathy.
The possibility of immunodeficiency is also an indication for antibiotics.
Muscle relaxants should be avoided until airway is
secured and lung ventilation confirmed.
Intraoperative fluid administration should be adapted to the cardiac function.
DiGeorge Syndrome: Characterized by
hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and
outflow tract defects of the heart. Disturbance of cervical neural crest
migration into the pharyngeal arches and pouches has been suggested as
mechanism. Results from the deletion of chromosome 22q11.2.
Shprintzen RJ, Goldberg RB, Young D, et al: The velo-cardio-facial
syndrome: A clinical and genetic analysis. Pediatrics
Singh VP, Agarwal RC, Sanyal S, et al: Anesthesia for DiGeorge's syndrome.
J Cardiothorac Vasc Anesth 11(6):81, 1997.