Velocardiofacial Syndrome Follow-up

  • Author: M Silvana Horenstein, MD; Chief Editor: Stuart Berger, MD   more...
 
Updated: Feb 29, 2012
 

Further Inpatient Care

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.

Next

Further Outpatient Care

Perform workup in an outpatient setting for other associated problems as needed.

Previous
Next

Transfer

Newborns who require heart surgery may need transfer to a tertiary center.

Previous
Next

Complications

Complications include the following:

  • Congestive heart failure
  • Pulmonary hypertension
  • Immune deficiency (cellular and humoral) with increased risk of infection and autoimmune diseases
  • Psychiatric disorders
Previous
Next

Prognosis

Those without serious heart defects can expect a normal lifespan.

Previous
Next

Patient Education

Genetic counseling of the patient and family should emphasize that most deletions are de novo, secondary to homologous recombination between low-copy repeat sequences located within 22q11.2. Nonetheless, both somatic and germline mosaicism can also occur, giving unaffected parents a small risk of recurrence. However, once present, velocardiofacial syndrome is dominant, and children of the patient have a 50% risk of being affected; children can be affected more severely or less severely than the parent.[18]

Prenatal diagnosis is available to detect the chromosome region 22q11 deletion.

For excellent patient education resources, visit eMedicine's Heart Center. Also, see eMedicine's patient education article Tetralogy of Fallot.

Previous
 
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, 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; 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.

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

  1. Shprintzen RJ, Goldberg RB, Lewin ML, et al. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J. Jan 1978;15(1):56-62. [Medline].

  2. Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. Oct 1997;34(10):798-804. [Medline].

  3. Goldmuntz E, Clark BJ, Mitchell LE, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol. Aug 1998;32(2):492-8. [Medline].

  4. Zemble R, Luning Prak E, McDonald K, McDonald-McGinn D, Zackai E, Sullivan K. Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol. Sep 2010;136(3):409-18. [Medline]. [Full Text].

  5. Gennery AR. Immunological aspects of 22q11.2 deletion syndrome. Cell Mol Life Sci. Jan 2012;69(1):17-27. [Medline].

  6. Prabhakaran VC, Davis G, Wormald PJ, Selva D. Congenital absence of the nasolacrimal duct in velocardiofacial syndrome. J AAPOS. Feb 2008;12(1):85-6. [Medline].

  7. Shprintzen RJ. Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev. 2008;14(1):3-10. [Medline].

  8. Theveniau-Ruissy M, Dandonneau M, Mesbah K, et al. The del22q11.2 candidate gene Tbx1 controls regional outflow tract identity and coronary artery patterning. Circ Res. Jul 18 2008;103(2):142-8. [Medline].

  9. Cuneo BF. 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. Curr Opin Pediatr. Oct 2001;13(5):465-72. [Medline].

  10. McLean-Tooke A, Spickett GP, Gennery AR. Immunodeficiency and autoimmunity in 22q11.2 deletion syndrome. Scand J Immunol. Jul 2007;66(1):1-7. [Medline].

  11. Leopold C, De Barros A, Cellier C, Drouin-Garraud V, Dehesdin D, Marie JP. Laryngeal abnormalities are frequent in the 22q11 deletion syndrome. Int J Pediatr Otorhinolaryngol. Jan 2012;76(1):36-40. [Medline].

  12. Li MJ, Wang CC, Chen SJ, et al. Anomalous ascending aorta causing severe compression of the left bronchus in an infant with ventricular septal defect and pulmonary atresia. Eur J Pediatr. Mar 2009;168(3):351-3. [Medline].

  13. Eberle P, Berger C, Junge S, et al. Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome. Clin Exp Immunol. Feb 2009;155(2):189-98. [Medline].

  14. Robin NH, Taylor CJ, McDonald-McGinn DM, et al. Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A. Nov 15 2006;140(22):2416-25. [Medline].

  15. Sundram F, Murphy DG, Murphy KC. White matter microstructure in children with Velocardiofacial Syndrome: A Diffusion Tensor Imaging and Voxel Based Morphometry study. J Intellect Disabil Res. Oct 2008;52(10):812. [Medline].

  16. Antshel KM, Fremont W, Kates WR. The neurocognitive phenotype in velo-cardio-facial syndrome: a developmental perspective. Dev Disabil Res Rev. 2008;14(1):43-51. [Medline].

  17. Carotti A, Digilio MC, Piacentini G, Saffirio C, Di Donato RM, Marino B. Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome. Dev Disabil Res Rev. 2008;14(1):35-42. [Medline].

  18. McDonald-McGinn DM, Zackai EH. Genetic counseling for the 22q11.2 deletion. Dev Disabil Res Rev. 2008;14(1):69-74. [Medline].

  19. Chow EW, Bassett AS, Weksberg R. Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics. Am J Med Genet. Jun 15 1994;54(2):107-12. [Medline].

  20. De Smedt B, Swillen A, Ghesquiere P, et al. Pre-academic and early academic achievement in children with velocardiofacial syndrome (del22q11.2) of borderline or normal intelligence. Genet Couns. 2003;14(1):15-29. [Medline].

  21. Digilio MC, Angioni A, De Santis M, et al. Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies. Clin Genet. Apr 2003;63(4):308-13. [Medline].

  22. Driscoll DA, Spinner NB, Budarf ML, et al. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet. Sep 15 1992;44(2):261-8. [Medline].

  23. Dyce O, McDonald-McGinn D, Kirschner RE, et al. Otolaryngologic manifestations of the 22q11.2 deletion syndrome. Arch Otolaryngol Head Neck Surg. Dec 2002;128(12):1408-12. [Medline].

  24. Goldberg R, Motzkin B, Marion R, et al. Velo-cardio-facial syndrome: a review of 120 patients. Am J Med Genet. Feb 1 1993;45(3):313-9. [Medline].

  25. Goldmuntz E. DiGeorge syndrome: new insights. Clin Perinatol. Dec 2005;32(4):963-78, ix-x. [Medline].

  26. Kelly D, Goldberg R, Wilson D, et al. Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. Am J Med Genet. Feb 1 1993;45(3):308-12. [Medline].

  27. Mehendale FV, Sommerlad BC. Surgical significance of abnormal internal carotid arteries in velocardiofacial syndrome in 43 consecutive hynes pharyngoplasties. Cleft Palate Craniofac J. Jul 2004;41(4):368-74. [Medline].

  28. Saitta SC, Harris SE, Gaeth AP, et al. Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet. Feb 15 2004;13(4):417-28. [Medline].

  29. Shprintzen RJ, Goldberg RB, Young D, Wolford L. The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics. Feb 1981;67(2):167-72. [Medline].

 
Previous
Next
 
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.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.