Prevalencia y características de las cardiopatías congénitas en pacientes con síndrome de Down, atendidos en el Hospital de Niños Dr. Roberto Gilbert Elizalde durante el periodo enero 2018 a diciembre 2022.

Abstract

Introduction: Congenital heart diseases are alterations in the structure of the heart that are present from birth; some can cause cyanosis, or lung injury due to increased blood flow. Management is varied, so some heart diseases do not cause greater hemodynamic repercussions and patients can be kept under clinical surveillance and follow-up; while others will require pharmacological support or surgical resolution; Worldwide, the incidence of congenital heart disease is close to 1%, however, it is known that patients with Down syndrome have a much higher prevalence, it is even said that it is close to 50%. There are few studies in Ecuador that talk about this group of patients, it is important to know the type of heart disease present and the management performed. Methods: An observational, retrospective, cross-sectional, descriptive study was conducted, collecting data from the SERVINTE system, refining them, and finally presenting them in graphs and tables. Results: A total of 1444 medical records were analyzed, of which 334 met the inclusion and exclusion criteria, patients were distributed according to their cytogenetic pattern, having 5% with Robertsonian translocation, 6% with genetic mosaicism and 89% with free trisomy; of the total number of patients, we found that 63% have some heart disease; Atrial septal defect was present in 58% of the cases. Conclusions: Approximately 2 out of 3 patients with Down syndrome had some type of congenital heart disease, with atrial septal defect being the most prevalent.