Caracterización de cardiopatías congénitas en pacientes con Síndrome de Down en una institución especializada de Bogotá

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instname:Universidad del Rosario

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Combariza Bayona, David Andrés; Gamarra Vergara, Elena Esther; Ramos Cruz, Germán Orlando; Especialista en Epidemiología (en Convenio con el CES)
Facultad de medicina; Universidad del Rosario
Síndrome Down; Cardiopatías Congenitas; Down syndrome; congenital heart defects; CARDIOPATÍAS CONGÉNITAS; SÍNDROME DE DOWN
thesis / dissertation description
Abstract Congenital heart diseases are the main finding associated to Down Syndrome (DS), and its prompt detection and intervention contributes to reduce the morbidity and mortality. The objective of this study was to distinguish and characterize the congenital heart defects of a pediatric population with DS, who attends an integral care center in Bogotá (Colombia) . Materials and methods: It was performed a descriptive cross-sectional study with clinical records of patients with Karyotypic diagnosis of DS, evaluating the congenital heart abnormalities documented in the institutional pediatric assessments; it was examined the possible relationship between certain risk factors like parents age and the gender of the child. Results: It was reviewed 157 clinical records, which met the inclusion criteria for the study. 57,2% were male patients and 42,8% female. Karyotypical distribution was 91.7% for standard trisomy, 3.8% to mosaicism and one case to translocation. Prenatal diagnosis of DS was performed in 12.1% of the evaluated cases. Congenital heart disease was observed in 103 patients (65.8%). Isolated heart defects were detected in 53 patients, and patent ductus arteriosus was the most frequent (26,2%). Atrial septal defect associated with ventricular septal defect was the most frequent combined defect (18,4%). No relationship was found between the examined risk factors and some type of heart disorder. Conclusions: We found a similar prevalence of congenital heart disease to that reported in the literature, however, we documented differences between the frequency and types of single and multiple defects described in other studies Keywords: Down syndrome, congenital heart defects, Colombia.