Spectrum of Congenital Heart Disease in Children with Down's Syndrome

Abstract

Background: Down syndrome is the most common chromosomal disorder and most common genetic cause of mental retardation.Congenital heart disease (CHD) is an important cause of morbidity and mortality in children with Down's syndrome.Objective: To determine the frequency and types of congenital heart diseases in children with Down syndrome and to relate it withconsanguinity.Material and Methods: This Cross-sectional study was carried out at Bacha Khan Medical Complex / Gajju Khan Medical College,Swabi, from January 2019-December 2020. Children less than 12 year's age with Down syndrome were enrolled in the study.Echocardiography of all these children was done and presence and type of CHD was noted.Results: Our study included 95 children with diagnosis of Down syndrome. The mean age was 56.12±41.89 months. 40% weremales. Mother's mean age was 33.04±4.2 years. Mothers having age = 35 years old were 30.5%. Parents having consanguineousmarriage were 33.7%. The diagnosis of major congenital heart defect was in 37.9%. Out of 36 CHD patients the type of congenitalheart lesion was as follows: 36.11% hadAVSD, 25% hadASD; 30.5% had VSD; 5.55% had tetralogy of Fallot and 2.78% had PDA.Children with down syndrome with CHD had older mothers <0.05. Mothers with consanguineous marriages had a greaterproportion of CHD children; p<0.05.Conclusion: Approximately 1/3rd Down syndrome children had congenital heart disease. The commonest lesion was AVSDfollowed by VSD, ASD, tetralogy of Fallot and PDA. Consanguineous marriages are associated with a greater frequency ofCHD in Down children.Keywords: Down syndrome, congenital heart disease, Echocardiography.