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

Abstract


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.


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DOI: https://doi.org/10.17987/jatamis.v1i0.177

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

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ISSN: 2518-6140 (on-line version)