Vol. 41 | No. 2 | July-December 2013 Back

Open Access

Association of Chromosomal 22q11 Deletion with Conotruncal Heart Defects in 0 to 18 Year Old Filipino Children

Maria Llaine J. Callanta, Catherine Lynn T. Silao, Maria Concepcion C. Sison, Edsel Allan G. Salonga
Dec 2013 DOI 10.69944/pjc.1f218bf10a

Abstract

BACKGROUND: Chromosome.22q11 deletion is associated with DiGeorge syndrome in which conotruncal heart defect is an important feature. Studies showed that non-syndromic patients with conotruncal anomalies may have 22q11 deletion. 

OBJECTIVES: This study aimed to determine the frequency of chromosome.22q11 deletion, and to describe the clinical manifestations of Filipino patients aged 0 to 18 years with non-syndromic conotruncal heart defects (CTHD). 

METHODS: This was a case-control study with 17 cases and 9 controls, age and sex matched. Four mL of blood was extracted for karyotyping and fluorescence in situ hybridization test using N25 (D22S75) and TUPLE1 probes. Degree of cyanosis and the number of medicine intake were also determined. 

RESULTS: None of the 17 cases had chromosome.22q11 deletion. Two patients had severe cyanosis (60-69% O2). The mean number of medication was two, with seven patients not receiving any medication. 

CONCLUSION: Our findings suggest the low prevalence of chromosome 22q11 deletion among isolated CTHD patients. The absence of this among non-syndromic cases may suggest other etiologies for conotruncal malformations. 

KEYWORDS: Conotruncal heart defect, 22q11 deletion, DiGeorge syndrome, Velocardiofacial syndrome, Conotruncal anomaly face syndrome.

References
  1. Libby P, Bonow RO, Mann DL, Zipes DP. Braunwald’s Heart Disease: A textbook of Cardiovascular Medicine (8th edition). Philadelphia: Saunders. 2008;1561:1564-1565. 
  2. Fuster V, O’Rourke R, Walsh R, Poole-Wilson P. Hurst’s: the Heart (12th edition). New York: McGraw-Hill. 2008: 1924. 
  3. Department of Health. Health Indicators: Infant Mortality. Retrieved from: http://nurseslabs.com/philippines-infant-mortality-rate-top leading-causes/ [Accessed on: April 1, 2013]. 
  4. Giuliani ER, Fuster V, Gersh BJ, McGoon MD, McGoon DC. Cardiology: Fundamentals and Practice (2nd edition). Mosby-Year Book, Inc., St. Louis. 1991: 617. 
  5. Anaclerio S, Di Ciommo V, Michielon G, Digilio MC, Formigari R, Picchio FM, Gargiulo G, Di Donato R, De Ioris MA, Marino B. Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality. Ital Heart J. 2004;5(8):624-628. 
  6. Section of Cardiology, Department of Pediatrics, Philippine General Hospital-University of the Philippines-College of Medicine [unpublished]. Top 5 CHD Consults. 2009. 
  7. Voigt R, R Voigt, Maier-Weidmann M, Lange P, Haaf T. Chromosome 10p13-14 and 22q11 deletion screening in 100 patients with isolated and syndromic conotruncal heart defects. J Med Genet 2002;39(4):e16. 
  8. Belangero SI, Bellucco FT, Kulikowski LD, Christofolini DM, Cernach MC, Melaragno MI.22q11.2 Deletion in Patients with Conotruncal Heart Defect and del22q Syndrome Phenotype. Arq Bras Cardiol. 2009;92(4):289-293. 
  9. Rosa RF, Zen PR, Ricachinevsky CP, Pilla CB, Pereira VL, Roman T, Varella-Garcia M, Paskulin GA. 22q11.2 Duplication and Congenital Heart Defects. Arq Bras Cardiol 2009; 93(4):e55-e57. 
  10. Beauchesne LM, Warnes CA, Connolly HM, Ammash NM, Grogan M, Jalal SM, Michels VV. Prevalence and Clinical Manifestations of 22q11.2 microdeletion in Adults with Selected Conotruncal Anomalies. J Am Coll Cardiol. 2005; 45(4):595–598. 
  11. Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, Emanuel BS, Driscoll DA. Frequency of 22q11 deletion in Patients with Conotruncal defects. J Am Coll Cardiol. 1998;32(2):492-498. 
  12. Ivanov D, Kirov G, Norton N, Williams HJ, Williams NM, Nikolov I, Tzwetkova R, Stambolova SM, Murphy KC, Toncheva D, Thapar A, O’Donovan MC, Owen MJ. Chromosome 22q11 deletions, velo cardio-facial syndrome and early-onset psychosis: Molecular genetic study. Br J Psych. 2003;183:409-413. 
  13. Matsuoka R, Kimura M, Scambler PJ, Morrow BE, Imamura S, Minoshima S, Shimizu N, Yamagishi H, Joh-o K, Watanabe S, Oyama K, Saji T, Ando M, Takao A,Momma K. Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. Hum Genet. 1998;103(1):70-80. 
  14. Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R, Patanjali SR, Weissman SM, Anyane-Yeboa K, Warburton D, Scambler P, Shprintzen R, Kucherlapati R, Morrow BE. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet. 1997;61(3):620-629. 
  15. Hsu D, Pearson G. Heart Failure in Children : Part I: History, Etiology, and Pathophysiology. Circ Heart Fail. 2009;2:63-70.
  16. Trainer AH, Morrison N, Dunlop A, Wilson N, Tolmie J. Chromosome 22q11 microdeletions in tetralogy of Fallot. Arch Dis Child 1996;74(1):62-63. 
  17. Wozniak A, Wolnik-Brzozowska D, Wisniewska M, Glazar R, Materna-Kiryluk A, Moszura T, Badura-Stronka M, Skolozdrzy J, Krawczynski MR, Zeyland J,Bobkowski W, Slomski R, Latos Bielenska A, Siwinska A. Frequency of 22q11.2 microdeletion in children with congenital heart defects in western Poland. BMC Pediatr. 2010;10:88. 
  18. Momma K, Kondo C, Matsuoka R. Tetralogy of fallot with pulmonary atresia associated with chromosome 22q11 deletion. J Am Coll Cardiol. 1996;27(1):198–202. 
  19. Mahle WT, Crisalli J, Coleman K, Campbell RM, Tam VK, Vincent RN, Kanter KR. Deletion of Chromosome 22q11.2 and Outcome in patients with Pulmonary atresia and Ventricular septal defect. Ann Thorac Surg. 2003;76(2): 567-571 
  20. Marino B, Digilio MC, Toscano A, Anaclerio S, Giannotti A, Feltri C, De Ioris MA, Angioni A, Dallapiccola B. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genetics in Medicine. 2001;3:45–48. 
  21. Digilio MC, Marino B, Giannotti A, Toscano A, Dallapiccola B. Recurrence risk figures for isolated tetralogy of fallot after screening for 22q11 microdeletion. Med Genet. 1997;34(3):188-190. 
  22. Amati F, Mari A, Digilio MC, Mingarelli R, Marino B, Giannotti A, Novelli G, Dallapiccola B. 22q11 deletions in isolated and syndromic patients with tetralogy of fallot. Hum Genet. 1995;95(5):479-482. 
  23. Goldmuntz E, Geiger E, Benson DW. NKX2.5 Mutations in Patients with Tetralogy of fallot. Circulation. 2001;104(21):2565-2568. 24. Morikawa Y, Cserjesi P. Cardiac neural crest expression of Hand2 regulates outflow and second heart field development. Circ Rs. 2008;103:1422-1429.
License

Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License, which permits use, share — copy and redistribute the material in any medium or format, adapt — remix, transform, and build upon the material, as long as you give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use. You may not use the material for commercial purposes. If you remix, transform, or build upon the material, you must distribute your contributions under the same license as the original. You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit https://creativecommons.org/licenses/by-nc-sa/4.0/.