Pattern of Congenital Heart Defects in 22q11 Microdeletion Syndrome in India – A Tertiary Care Cardiac Hospital Based Study

Viralam S Kiran, Yash S Shrivastava, Siddaramappa J Patil, Sejal S Shah


Background: To investigate pattern of Congenital Heart Defects in 22q11 microdeletion syndrome.

Methods: A retrospective study from year 2006 to 2015 of children with 22q11 microdeletion and pattern of Congenital Heart Defects.

Results: Ninety-Six children with Fluorescent in-situ Hybridisation positive for 22q11.2 microdeletion and Congenital Heart Defects were identified. Out of these 96, the most common Congenital Heart Defect variants were Tetralogy of Fallot (39.58%), Pulmonary Atresia with Ventricular Septal Defect (29.16%), and isolated Ventricular Septal Defect (10.4%). Conotruncal defects constituted majority (82%) followed by Ventricular Septal Defects. Two rare associations were: one child with mitral valve prolapse & another with left pulmonary vein stenosis.

Conclusion: 22q11.2 microdeletion syndrome is commonly associated with Congenital Heart Defects. Among children with Congenital Heart Defects and 22q11.2 microdeletion, conotruncal malformations were the most common defects followed by Ventricular Septal Defect.

Full Text:



Botto LD, May K, Fernhoff PM, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 2003;112:101-107.

Wilson DI, Cross IE, Wren C, Scambler PJ, Burn J, Goodship J. Minimum prevalence of chromosome 22q11 deletions. Am J Hum Genet 1994;55:A169.

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 1997;34:798-804.

Park IS, Ko JK, Kim YH, et al. Cardiovascular anomalies in patients with chromosome 22q11.2 deletion: a Korean multicenter study. Int J Cardiol 2007;114:230-235.

Peyvandi S, Lupo PJ, Garbarini J, et al. 22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases. Pediatr Cardiol. 2013;34:1687-1694.

Tennstedt C, Chauoui R, Korner H, Dietel M. Spectrum of Congenital Heart Defects and extracardiac manifestations associated with chromosomal abnormalities: results of a seven year necropsy study. Heart 1999;82:34-39

Kiran VS, Nath PP, Maheshwari S. Spectrum of paediatric cardiac diseases: a study of 15,066 children undergoing cardiac intervention at a tertiary care centre in India with special emphasis on gender. Cardiol Young 2011;21:19-25

Halder A, Jain M, Chaudhary I, Kabra M. Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India. BMC Med Genet. 2010;11:101.

McElhinney DB, McDonald-McGinn D, Zackai EH, et al. Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age. Pediatrics 2001;108:E104.

McElhinney DB, Driscoll DA, Levin ER, Goldmuntz E. Chromosome 22q11 deletion in patients with Ventricular Septal Defect: frequency and associated cardiovascular anomalies. Pediatrics 2003;112:e472.

Ziolkowska L, Kawalec W, Turska-Kmiec A, et al. Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery. Eur J Pediatr 2008 ;167:1135-1140

Iserin L, de Lonlay P, Viot G, et al. Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies. Eur J Pediatr 1998 ;157:881-884.

Marino B, Digilio MC, Toscano A, et al. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med 2001;3:45-48.

Goldmuntz E, Clark BJ, Mitchell LE, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 1998;32:492-498.

McDonald-McGinn DM, LaRossa D, Goldmuntz E, et al. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test. 1997;1:99–108.

Grassi MS, Jacob CM, Kulikowski LD, et al. Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion. Arq Bras Cardiol 2014;103:382-390.

Shewan LG, Coats AJS. Requirements for ethical publishing in biomedical journals. International Cardiovascular Forum Journal 2015;2:2 DOI: 10.17987/icfj.v2i1.4



  • There are currently no refbacks.

Copyright (c) 2016 Viralam S Kiran, Yash S Shrivastava, Siddaramappa J Patil, Sejal S Shah

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.

ISSN: 2518-6140 (on-line version)