Velocardiofacial Syndrome Treatment & Management

Author: M Silvana Horenstein, MD; Chief Editor: Stuart Berger, MD more...

Updated: Feb 4, 2009

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Medical Care
Surgical Care
Consultations
Diet
Activity
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Medical Care

Evaluation of patients with velocardiofacial syndrome (VCFS) usually occurs in an outpatient setting. In newborns, diagnosis may be made in the hospital.

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.^[13]

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.^[14]

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.

Consultations

Consultation with the following may be indicated:

Pediatric cardiologist
Cardiothoracic surgeon
Plastic surgeon (cleft palate)
Endocrinologist
Otolaryngologist
Ophthalmologist
Pediatrician (developmental)
Psychiatrist
Medical geneticist

Diet

No special diet is required, except as indicated for cardiac disease, feeding problems, growth problems, or other abnormalities.

Activity

Usually no restrictions are needed, except as indicated for cardiac disease or other abnormalities.

Proceed to Medication

Contributor Information and Disclosures

Author

M Silvana Horenstein, MD Assistant Professor, Department of Pediatrics, University of Texas Medical School 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, and American Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

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.

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 and 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

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, FAAP, FACC, FAHA 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, Cardiac Electrophysiology Society, New York Academy of Sciences, Society for Pediatric Research, Texas Medical Association, and Texas Pediatric Society

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

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.

Gilbert Z Herzberg, MD Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College; Consulting Staff, Department of Pediatrics, Sound Shore Medical Center

Gilbert Z Herzberg, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Chief Editor

Stuart Berger, MD Professor of Pediatrics, Division of Cardiology, Medical College of Wisconsin; Chief of Pediatric Cardiology, Medical Director of Pediatric Heart Transplant Program, Medical Director of The Heart Center, Children's Hospital of Wisconsin

Stuart Berger, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American College of Chest Physicians, American Heart Association, and Society for Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

References

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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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