Prevalence of Down’s Syndrome in Patients of Congenital Heart Disease in Vidarbha Region Central India

Abstract

Introduction: Down’s syndrome is a genetic state in which a person has 47 chromosomes instead of 46, with an additional copy of chromosome number 21. This additional genetic material disorders the normal growth process leading to medical and physical defects in cases of Down’s syndrome. Children with Down’s syndrome are distinguished by mental retardation and typical facial features but they also have high occurrence of a variety of Congenital Heart Disease (CHD). Aim: This study was done with an aim to estimate the occurrences of CHD among the patients with Down’s syndrome. Materials and Methods: In this cross-sectional study, 374 cases of heart disease from age group of 0 to 14 years were studied for the occurrence of Down’s syndrome during the period of 2008 to 2012. The standard karyotyping method was used to confirm Down’s syndrome. The normal children of equivalent age group were taken as control. The heart defects were also collected. The collected data was compared with the globally accepted statistics of Down’s syndrome. Results: Out of 374 diagnosed cases of CHD, seven cases (four males and three females) were confirmed with the Down’s syndrome (1.87%). The Down’s syndrome frequency (1.87%) which is significantly very high in comparison with the age matched control patient’s frequency of 0.1% (1 in 1000). Conclusion: CHDs were prevalent in the children with Down’s syndrome, whereas the prevalence of CHD was significantly low when compared to controls of same age groups. The frequency of CHD among children with Down’s syndrome is found to be 1.87%. The CHD may appear with the birth and are more common in Down’s syndrome.

Keywords

• congenital anomalies
• karyotyping
• mental retardation