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Velocardiofacial Syndrome Workup

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

Laboratory Studies

It is recommended that infants born with interrupted aortic arch type B or other isolated aortic arch anomalies, as well as those with truncus arteriosus or tetralogy of Fallot, undergo genetic testing to detect a 22q11.2 deletion.

High-resolution (650 band level and above) chromosome analysis is used to look for a chromosome region 22q11.2 deletion.

Fluorescence in situ hybridization (FISH) for a band 22q11.2 deletion must be performed to rule out a submicroscopic deletion (see the image below).

Chromosomal fluorescence in situ hybridization (FI Chromosomal fluorescence in situ hybridization (FISH) demonstrating the deletion of one chromosomal region 22q11 segment.

In addition, both parents of a proband should undergo chromosome analysis and 22q11 FISH testing to determine if either is a carrier (frequency is 10%). This allows for accurate recurrence risk estimates.

Serum calcium levels should be measured in diagnosed newborns and in any patients with suspected velocardiofacial syndrome at any age who have seizures.

Immunological studies (T-cell marker studies) should be performed as directed by a pediatric immunologist on all infants with this diagnosis and in older individuals who have a history of frequent infections.

Genetic testing serves to identify those individuals affected by the 22q11.2 deletion and, therefore, identifying the need for present and future medical attention.

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Other Tests

ECG can help determine the presence of a heart defect.

To detect hearing loss, conduct audiology testing at the time of diagnosis and at least annually thereafter.

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Imaging Studies

Chest radiography can reveal evidence of a heart defect.

Echocardiography is needed to rule out a heart defect, even in the absence of a heart murmur.

Renal ultrasonography is used to look for a structural anomaly.

Brain MRI is used if a severe delay is present. Numerous brain malformations have been observed in these patients, such as pachygyria or polymicrogyria, agenesis of the corpus callosum, myelomeningocele, and mild cerebellar hypoplasia or mega cisterna magna (the latter 2 are the most common).[15] Interestingly, young patients with velocardiofacial syndrome have significant differences in white matter microstructure and volume, and some of these defects seem to be associated with schizotypal behavior.[16]

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Procedures

Cardiac catheterization is not necessary for most patients with velocardiofacial syndrome but might be indicated to evaluate and treat specific cardiac lesions.

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Contributor Information and Disclosures
Author

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.

Coauthor(s)

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.

Acknowledgements

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.

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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