Retrospective evaluation of patients with down syndrome due to congenital heart disease in Cukurova University Faculty of Medicine Pediatric Cardiology Department

ABSTRACT Retrospective evaluation of Patients with Down Syndrome Due to Congenital Heart Disease in Cukurova University Faculty of Medicine Pediatric Cardiology Department Aim: Congenital heart diseases are the most important reason affecting mortality and morbidity in cases with Down syndrome (DS). For this reason, early diagnosis and treatment is of great importance in the follow-up of these patient. In this study, it was aimed to evaluate the frequency, type, and clinical results of congenital heart diseases in our DS patients who are being followed up in our clinic and to compare the results with the literature findings. Materials and Metods: In our study, 439 patients with DS which were followed up in Çukurova University Faculty of Medicine (ÇUTF) Department of Pediatric Cardiology between January 1995 and December 2019, were examined. 42 (55.1%) patients were (median 4) and 197 (44.9%) were male, and mean age of diagnosis was 11.41 ± 23.92 months. The age of diagnosis, gender, clinical findings, maternal age, type of heart defect, and genetic analysis results were recorded. Statistical analysis of the study data was done with IBM SPSS Statistics Version 20.0 package program. Findings: Ventricular septal defect (VSD) in 171 (39%) patients, atrioventricular septal defect (AVSD) in 158 (36%) patients, atrial septal defect (ASD) in 33 (7.5%) patients, tetralogy of Fallot (TOF) in 26 (5.9%) patients, and patent ductus arteriosus (PDA) in 22 (5%) patients were found. In 7 (1.6%) patients with DS, other types of congenital heart anomalies which were seen less frequently were found. The unity of Fallot tetralogy and atrioventricular septal defect was seen in 1 (0.2%) patient, and the unity of secundum atrial septal defect and patent ductus arteriosus was seen in 21 (4.8%) patients. Regular type trisomies were seen more frequently in our study. It is interesting that the mothers ages were under the age of 35 in 213 patients. In our study, no significant relationship was found between chromosome analysis types, congenital heart anomaly types and maternal age. Conclusion: Early diagnosis and treatment of CHD are an important factor affecting the prognosis and quality of life children with DS. We may suggest that all of the children with DS must have a comprehensive cardiac investigation. Key words: Down syndrome, Congenital heart disease, Early diagnosis