Genetic perspective of cardiovascular complications in Downs syndrome: A review

Abstract

Downs syndrome is the most prevalent chromosomal defect with mild to severe intellectual disability, distinctive facial traits and low muscle tone in children. The syndrome is commonly referred to as trisomy 21 due to the presence of an extra copy of chromosome 21. Congenital heart disease (CHD) or cardiovascular diseases, remain a major cause of sickness and mortality in Downs syndrome children and affects around half of the Down syndrome cases. Pulmonary hypertension, concomitant pulmonary, endocrine and metabolic illnesses, as well as risk factors for atherosclerotic disease are additional factors that contribute to cardiovascular problems in DS population. Globally, there can be significant variations in the patterns of CHD in Down syndrome, which may be caused by sociodemographic, genetic and regional factors. However, genetic factors contribute significantly in the pathophysiology of CHD in Downs syndrome especially the Hsa21 and non-Hsa21 genes. Moreover, the role of ncRNAs and miRNAs in regulating the expression of these genes is remarkable. The present review provides an insight of the cardiac defects associated with Downs syndrome and their pathophysiology. The article also highlights the role of ncRNAs and miRNAs in regulating the manifestation of the cardiac defects in Downs syndrome cases.