Evaluating of the frequency of congenital HEART disease in children with down syndrome

Objective: In this study, it was aimed to investigate the frequency of congenital heart disease in patients with Down syndrome who applied to our clinic. Material-Method: Patients aged 0-18 years, who applied to Dicle University Faculty of Medicine (DUTF) Pediatric Cardiology Outpatient Clinic between 01.01.2016 and 01.05.2022 with the diagnosis or pre-diagnosis of Down syndrome, were included. Patients who applied to the Pediatric Cardiology outpatient clinic between the specified dates had an echocardiographic examination, and were diagnosed with Down Syndrome as a result of genetic examination were included. Results: A total of 418 patients were included in our study. The mean age of the patients was 50.26±55.34 months (range: 1 – 252 months), and the median age was 24 months. 50% of the patients (n=209) were male and 50% (n=209) were female. The mean peak heart rate of the patients was 110±28.64/min, and the transcutaneous capillary oxygen saturation was 92.93±5.55. When the electrocardiographic findings are examined; 86% (n=359) of the patients had no significant ECG finding. Right bundle branch block was found in 8.6%, complete AV block in 1.9%, other blocks in 1.6%, and another pathology in 1.9% of the patients. Congenital heart disease was detected in 87.6% (n=366) of the patients. The most common accompanying cardiac pathology was found to be AVSD with 28.1% (n=103). Isolated VSD was found in 19.1% of the patients, isolated ASD in 11.2%, isolated PFO in 9.3%, and isolated PDA in 9.2% of the patients. There was no accompanying disease in 31% (n=127) of the patients. The most common accompanying disease was isolated Hypothyroidism (n=76). The total number of patients with accompanying hypothyroidism was 91 (incidence= 21.7%). Isolated anemia was found in 26 patients, hypothyroidism+anemia in 12 patients, and acute lymphoblastic leukemia in 4 patients, respectively. Other comorbidities were detected in 4 patients. While the surgical procedure was performed in 27.4% (n=115) of the patients due to heart disease, defect closure was performed in 2.6% (n=11) of the patients. Conclusion: It should be kept in mind that the most common concomitant anomaly in Down syndrome diseases is congenital heart disease. Down syndrome patients with congenital heart disease should be enrolled in cardiac follow-up. Hypothyroidism is the most common comorbid disease in patients with Down syndrome, apart from cardiac pathology. It is recommended that patients be screened in this respect. Keywords: Down syndrome, cardiac pathologies, atrioventricular septal defect, ventricular septal defect, atrial septal defect, congenital heart disease, child.