Characterization of Patients with Down Syndrome in the ABC Down Program in Medellín, Colombia, 2022
DOI:
https://doi.org/10.17533/udea.iatreia.343Keywords:
Congenital Abnormalities, Down Syndrome, Heart Defects CongenitalAbstract
Introduction: Down syndrome (DS) is a prevalent chromosomopathy and is the genetic condition most associated with cardiac birth defects, with atrioventricular septum defects being the most common. The syndrome is also characterized by phenotypic traits such as brachycephaly, epicanthic folds, flat nasal bridges and transverse palmar creases, and is associated with multiple malformations, including duodenal atresia, hypospadias, cheilognathopalatoschisis and laryngomalacia, and the most frequent comorbidities include hypothyroidism, diabetes and obstructive sleep apnea. In Colombia, it is estimated that every 17.82 per 10.000 live births has DS, and a recent local study reports a high percentage of associated cardiopathies. However, regional studies that report an adequate characterization of this population are scarce and outdated.
Objectives: Characterize the clinical characteristics and epidemiology of cardiac defects and congenital malformations in patients with DS in the ABC Down program of Medellin in 2022.
Methods: An observational retrospective and descriptive study was conducted, in which qualitative and quantitative variables were extracted from clinical histories and subjected to a univariate analysis.
Results: The study included 31 patients, from which 39% had 3 congenital cardiopathies, with the atrial septum defect being the most prevalent (58.1%), followed by patent ductus arteriosus 48.4%
Conclusions: The results differ from those reported in the literature, highlighting the need for further studies with a larger amount and higher quality of information.
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