HEART DISEASE PRESENT IN CHILDREN WITH DOWN SYNDROME

Abstract

Down syndrome is also called trisomy 21, which has by definition a genetic alteration in chromosome 21 being extra, which determines a specific physical and mental condition. Its clinical diagnosis is given by the presence of certain specific phenotypes. Laboratory diagnosis is made by genetic analysis through karyotype. A frequent condition in patients with Down syndrome is the presence of congenital heart disease, around 50% of those born with Down syndrome have this condition of heart defect. Cardiac malformations originate in the embryonic period in the first weeks of gestation, the most frequent being atrioventricular septal defect, ventricular septal defect, atrial septal defect and patent ductus arteriosus. About 30 thousand children born in Brazil annually have some alteration in cardiac structure or function. This data is modified when we restrict ourselves to patients with Down syndrome, which 40% to 60% of births are associated with some type of congenital heart disease, which is the main cause of mortality in this population. Trisomy 21 (T21) affects about 1 in every 700 live births, this number is variable when associated with maternal age during the gestation period. This study aims to determine the prevalence of heart diseases associated with Down Syndrome in children treated at a reference hospital in Western São Paulo, with a diagnosis confirmed by karyotype and echocardiogram performed at the study hospital, in addition to elucidating the prevalence of congenital heart diseases associated with gender and maternal age. This is a retrospective cross-sectional study with analysis of data from medical records and electronic databases, from January 2010 to March 2020.