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Velocardiofacial Syndrome Treatment & Management

  • Author: M Silvana Horenstein, MD; Chief Editor: Howard S Weber, MD, FSCAI  more...
Updated: Feb 13, 2014

Medical Care

Evaluation of patients with velocardiofacial syndrome (VCFS) usually occurs in an outpatient setting. Perform workup in an outpatient setting for other associated problems as needed.

In newborns, however, the diagnosis may be made in the hospital. Admit a newborn with cyanosis for heart defect workup. Newborns with or without associated heart defects may require a prolonged hospitalization to work on feeding.

If needed, use medical therapy to treat heart failure, hypocalcemia, immune deficiency, feeding problems, and inadequate growth.

In terms of neurocognitive issues associated with velocardiofacial syndrome, 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 functioning within the low-borderline range. Related features include significant visuospatial dysfunction, 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.[17]


Newborns who require heart 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.


Surgical Care

At the time of surgery, 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.[18]

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.

Ventilation of ear tubes may be indicated.



Consultation with the following may be indicated:

  • Pediatric cardiologist
  • Cardiothoracic surgeon
  • Plastic surgeon (cleft palate)
  • Endocrinologist
  • Otolaryngologist
  • Ophthalmologist
  • Pediatrician (developmental)
  • Psychiatrist
  • Medical geneticist
Contributor Information and Disclosures

M Silvana Horenstein, MD Assistant Professor, Department of Pediatrics, University of Texas Medical School at Houston; Medical Doctor Consultant, Legacy Department, Best Doctors, Inc

M Silvana Horenstein, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Medical Association

Disclosure: Nothing to disclose.


Robert Ardinger, Jr, MD Associate Professor, Department of Pediatrics, Division of Pediatric Cardiology, University of Kansas Medical Center

Robert Ardinger, Jr, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology

Disclosure: Nothing to disclose.

Holly Ardinger, MD Clinical Associate Professor, Section Chief, Pediatric Genetics, Department of Pediatrics, University of Kansas Medical Center

Holly Ardinger, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Ameeta Martin, MD Clinical Associate Professor, Department of Pediatric Cardiology, University of Nebraska College of Medicine

Ameeta Martin, MD is a member of the following medical societies: American College of Cardiology

Disclosure: Nothing to disclose.

Chief Editor

Howard S Weber, MD, FSCAI Professor of Pediatrics, Section of Pediatric Cardiology, Pennsylvania State University College of Medicine; Director of Interventional Pediatric Cardiology, Penn State Hershey Children's Hospital

Howard S Weber, MD, FSCAI is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, Society for Cardiovascular Angiography and Interventions

Disclosure: Received income in an amount equal to or greater than $250 from: St. Jude Medical.

Additional Contributors

Jeffrey Allen Towbin, MD, MSc FAAP, FACC, FAHA, Professor, Departments of Pediatrics (Cardiology), Cardiovascular Sciences, and Molecular and Human Genetics, Baylor College of Medicine; Chief of Pediatric Cardiology, Foundation Chair in Pediatric Cardiac Research, Texas Children's Hospital

Jeffrey Allen Towbin, MD, MSc is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Cardiology, American College of Sports Medicine, American Heart Association, American Medical Association, American Society of Human Genetics, New York Academy of Sciences, Society for Pediatric Research, Texas Medical Association, Texas Pediatric Society, Cardiac Electrophysiology Society

Disclosure: Nothing to disclose.


Thomas J Forbes, MD, FACC, FSCAI Associate Professor (Clinical-Educator), Director of Catheterization Laboratory, Division of Pediatric Cardiology, Children's Hospital of Michigan, Wayne State University

Thomas J Forbes, MD, FACC, FSCAI is a member of the following medical societies: American College of Cardiology, American Heart Association, and Society of Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

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Chromosomal fluorescence in situ hybridization (FISH) demonstrating the deletion of one chromosomal region 22q11 segment.
Karyotype of a patient with a deletion of chromosome region 22q11. Complete karyotype is shown along with an enlargement of an image of chromosome 22 demonstrating the deletion.
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