STUDY OF PREVALENCE, NON GENETIC RISK FACTORS AND NKX2.5 GENE CORRELATION OF CONGENITAL HEART DISEASES IN KANPUR AND PERIPHERY

Abstract

Background: The estimated birth prevalence of CHD is 8-12/1000 live births with a significant geographical
difference. In India, over 180,000 children are born with CHD every year with state wise variation and contribute to
10% of the present infant mortality. Nearly one thirds of the CHD are critical requiring intervention in the 1st year of
life. Most of the CHD are thought to be multifactorial and result from a combination of genetic and non genetic risk
factors.
Materials and Methods: A total of 200 CHD cases and 200 as control subjects were studied. Risk factors were
examined separately. Nkx2.5 gene correlation was studied by using conventional PCR.
Main Findings: The prevalence of CHD is reported in this study is 8.48/1000 live births. Total 200 cases of CHDs,
VSD-40%, ASD-31%, TOF-11%, PDA-10%, PS-03%, AS-03%, COA-01% and TA-01% are reported. Total 200
cases of CHD patient’s mothers medical history was analyzed and noted history of abortions in 65 cases,
pregestational diabetes in 60 cases, obesity in 50 cases, family history with CHD in 40 cases, maternal usage of
drugs in 15 cases, advanced maternal age in 15 cases and smoking and drinking alcohol in 8 cases.
Conclusion: Both Genetic and Non ‐genetic risk factors are associated to CHDs. Nkx2.5 gene is the master regulator
for process of cardio genesis. Nkx2.5 Gene is mostly associated to Atrial Septal Defects, Tetralogy of Fallot and
Ventricular Septal Defects. Building a healthy life habits, maternal counseling for periconceptional control of blood
glucose, adequate weight maintenance, and avoidance of stress is needed to prevent CHD.