Background: Congenital cardiac disease is the greatest cause of death in patients with Down's syndrome during the first two years of life, with from two-fifths to two-thirds of those with Down's syndrome also having congenital cardiac malformations. The lesions within the heart can be single or multiple. Our objective was to evaluate the frequency and type of such congenital cardiac malformations in patients born with Down's in Guatemala, and to provide baseline information for further research.
Methods: We reviewed all patients with Down's syndrome who underwent a cardiologic screening examination between January, 1997, and December, 2003, in the only department dealing with Paediatric Cardiology in Guatemala.
Results: Of the 349 patients reviewed, 189 (54.1 per cent) also had an associated congenital cardiac malformation. The median age at diagnosis was 6 months, with a range from 2 to 13 months. In 152 patients (80.4 per cent), the cardiac lesion was isolated, while 37 patients (19.6 per cent) had multiple defects. The most common single defect was patency of the arterial duct, found in 54 of the 189 patients (28.6 per cent), followed by ventricular septal defect in 27.5 per cent, atrial septal defect in 12.7 per cent, and atrioventricular septal defect with common atrioventricular junction in 9.5 per cent. The most frequent concomitant malformation found co-existing with other congenital cardiac lesions was patency of the arterial duct, found in 17.5 per cent.
Conclusions: As far as we are aware, ours is the first epidemiologic study concerning the frequency and type of congenital cardiac disease found in Guatemalan children with Down's syndrome. The high frequency of patency of the arterial duct, and the differential distribution of the cardiac malformations associated with Down's syndrome among Guatemalan children, differ from what has been reported in the United States of America, Europe, and Asia. This difference warrants further research.