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).

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

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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 (VCFS) at any age who have seizures.

Immunologic 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.

Other Tests

Electrocardiography (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.

Imaging Studies

Chest radiography can reveal evidence of a heart defect in a patient with velocardiofacial syndrome (VCFS).

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 magnetic resonance imaging (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 two are the most common).^[10] Of note, young patients with VCFS have significant differences in white matter microstructure and volume, and some of these defects seem to be associated with schizotypal behavior.^{[11, 25]}

Procedures

As stated earlier, the most common cardiac malformations in patients with velocardiofacial syndrome (VCFS) include conotruncal defects, such as tetralogy of Fallot (TOF), pulmonary atresia with ventricular septal defect (PA-VSD), truncus arteriosus (TA), interrupted aortic arch (IAA), and ventricular septal defect (VSD). Cardiac catheterization is usually not necessary for diagnosis, as an echocardiogram will show the cardiac structures; however, it might be indicated to evaluate and treat specific cardiac lesions, such as stenotic pulmonary arteries where flow may be severely restricted.

Treatment & Management

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Media Gallery

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

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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: Society for Cardiovascular Angiography and Interventions

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

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.