Medical Care
Evaluation of patients with velocardiofacial syndrome (VCFS) usually occurs in the outpatient setting where workup for other associated problems is requested as needed.
In newborns, however, the diagnosis may be made in the hospital, either at the bedside if the diagnosis was known prior to birth through a fetal echocardiogram or suspected after birth due to cyanosis. Newborns with or without associated heart defects may still require a prolonged hospitalization secondary to feeding difficulties.
Medical therapy may be required to treat heart failure, hypocalcemia, immune deficiency, feeding problems, and inadequate growth. Medications may be required for specific abnormalities in patients with VCFS as indicated (see "Other Problems to be Considered" in the DDx section).
Neurocognitive issues associated with VCFS during infancy and preschool years, feeding problems, cleft palate, and developmental disorders occupy most of the clinical management in these patients. During school years, management shifts to cognitive, behavioral, and learning disorders. The most common cognitive finding in these patients is their functioning within the low-borderline range. Related features include significant visuospatial dysfunction, [26] diminished math attainment, and executive dysfunction. In late adolescence and adult years, psychiatric illness such as schizophrenia or bipolar disorder become more of a concern because these may develop in 10% of adults with this condition. [12]
Transfer
Newborns who require cardiac surgery may need transfer to a tertiary center.
Diet and activity
No special diet is required, except as indicated for cardiac disease, feeding problems, growth problems, or other abnormalities.
Usually no restrictions are needed, except as indicated for cardiac disease or other abnormalities.
Consultation
Consultation with the following specialists may be indicated:
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Pediatric cardiologist
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Cardiothoracic surgeon
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Plastic surgeon (cleft palate)
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Endocrinologist
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Otolaryngologist
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Ophthalmologist
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Pediatrician (developmental)
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Psychiatrist
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Medical geneticist
Surgical Care
At the time of surgery for patients with velocardiofacial syndrome (VCFS), the complex cardiovascular anatomy in association with depressed immunological status, pulmonary vascular reactivity, neonatal hypocalcemia, bronchomalacia and bronchospasm, laryngeal web, and tendency for airway bleeding must be considered. [27]
Irradiated cell blood products should be used in patients susceptible to developing graft versus host disease; if the immune status of the patient is not known, irradiated cell blood products must be used.
A cleft palate should be repaired.
Pharyngeal flap surgery may be required to treat velopharyngeal incompetence (VPI) and improvement in hypernasality; in planning the surgery, consider that the internal carotid is commonly medially displaced and tortuous. Note that thinned levator veli muscle in patients with velocardiofacial syndrome patients appears to be associated with widened velopharyngeal gap and production of hypernasal speech, and thus negatively impact postoperative surgical outcome of pharyngeal flap surgery. [28]
Ventilation of ear tubes may be indicated.
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Velocardiofacial Syndrome. Chromosomal fluorescence in situ hybridization (FISH) demonstrating the deletion of one chromosomal region 22q11 segment.
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Velocardiofacial Syndrome. Karyotype of a patient with a deletion of chromosome region 22q11. The complete karyotype is shown along with an enlargement of an image of chromosome 22 demonstrating the deletion.
