Down sendromunda konjenital kalp hastalığı sıklığının ve ekokardiyografik bulguların değerlendirilmesi.

Objective: Early diagnosis and management of congenital heart diseases (CHD) which are common in Down Syndrome (DS), is important, since these disease effect morbidity and mortality. Our purpose was to investigate the rate, type, and clinical features of congenital heart diseases (CHD) encountered in Down Syndrome (DS), and to compare our result with the literature. Methods: In this study, 170 patients (91 female, 79 male), diagnosed with Down syndrome, who admitted to our hospital of cardiology department, in 1 year period, were included. Their ages were between 1 month and 14.7 yrs (mean ± SD = 4.6 ± 4.3 yrs). Cardiac examinations of all patients were performed by pediatric cardiology department. Age, sex, clinical features, maternal age, type of cardiac defect and genetic analysis results were recorded. Results: In 90 DS, patients with CHD, primarily VSD in 35 patients (38.8%), AVSD in 22 patients (24.4%), ASD in 20 patients (22.2%), and PDA in 3 patients was found. The others, Tetralogy of Fallot in one patient, TGA in one patient, and DORV in 3 patients. Two of the remaining 5 patients had patent foramen ovale and 3 had MVP. During the study, 5 patients (21%) died mostly due to CHD and/or accompanying sepsis. Rate of CHD was significantly higher in regular type trisomies. It is interesting that the mothers under 35 yrs of age were 72.4% in this study. While physical examination of 91 (53.5%) patients were normal, 79 (46.4%) had murmurs, additional heart sounds and findings indicating congenital heart disease. When evaluated according to echocardiograms, CHD was found in 11 patients (6.5%) with normal physical examination, and all of the patients with pathological examinations. Conclusion: Early diagnosis and management is important, as it influences prognosis and life quality of children with DS. We may suggest that all of the children with DS must have a comprehensive cardiac investigation. [ABSTRACT FROM AUTHOR]