Clinical Features and Cardiac Anomalies of Children with Down Syndrome. A Literature Report
Authors: Lakhani Bhavesh , Karkera Shilpa , Manahan Kelly J. , Geisler John 
Published: May 2024

Background: Clinical diagnosis of Down syndrome is based on the characteristic features and associated malformations. Nonetheless, there is significant individual diversity in the clinical presentation. Not every physical characteristic may be present, particularly in infants. At the same, congenital heart abnormalities (CHD) remain a major predictor of death in children with Down syndrome (DS) despite improvements in surgical therapy for these conditions. The effects of DS vary from person to person, with some people having a significant impact while others are well and capable of living unassisted as adults. So, this study is done to understand the pattern of clinical features and cardiac anomalies in various research reports.Aim: This scoping review aims to describe the frequency and distribution of clinical features and cardiac anomalies in children with Down syndrome and to consider the clinical implications of this knowledge.Methods: Medline, CINHAL, and PubMed databases were searched electronically to identify pertinent articles from 2000 to 2023. Children with Down syndrome and cardiac comorbidities aged 18 years or younger met the inclusion criteria. Articles that were not peer-reviewed or written in English were disqualified at the title or abstract level.Results: Literature revealed that the common physical and dysmorphic features found in individuals with Down syndrome include flat facial profile, epicanthal folds, upward slanting eyes, hypotonia, small ears, short neck, protruding tongue, small hands and feet, brushfield spots, sandal gap, and short stature. It's important to note that while these physical features are commonly associated with Down syndrome, not all individuals will exhibit every characteristic, and the severity can vary greatly among individuals.A high prevalence of CHD was reported in DS children from a group where consanguinity was relatively frequent. The prevalence of congenital heart disease in children with Down syndrome is the highest reported, especially when the researchers have used diagnostic ultrasound. VSD and AVSD, followed by persistent ductus arteriosus, and tetralogy of Fallot are the most common CHD in DS children. Recent research suggests that though the incidence of CHD in DS children has remained stable over time, there may be trends in some forms of CHD, with a rise in isolated, less severe kinds and a reduction in complicated, more severe ones. Individuals with Down syndrome can lead fulfilling lives with appropriate support and resources.Conclusion: All neonates with a new diagnosis or suspicion of DS must undergo comprehensive screening, which includes clinical examination, ECG, and echocardiography in the second trimester combined with fetal echocardiography when the fetal ultrasonography raises the likelihood of an abnormality. Literature proves that regardless of the existence of DS, early CHD repair is advised for newborns susceptible to biventricular surgery. For the most part, DS is not linked to an increased perioperative risk for CHD.Understanding DS heterogeneity will help professionals provide better prenatal counseling, assist parents in establishing focused early interventions to improve daily activities and the quality of life for their children, and assist policy-makers in providing and allocating resources for disability services. A sustaining commitment to scientific and clinical research studies is necessary to enhance the quality of life and survival for DS patients from infancy into adulthood.