NONCARDIAC DEFECTS IN CHILDREN WITH CONGENITAL HEART-DISEASE

During a 39-month period, we prospectively studied the noncardiac defects (NCD) in 320 Saudi children who presented to us with congenital heart disease (CHD). Ninety NCD were detected in 80 (25%) of the 320 patients. Recognized syndromes comprised 49 (54%) of the 90 NCD; Down syndrome alone accounted for 32 (65%) of the 49 syndromal defects. Next to syndromal defects were musculoskeletal (24.5%), neurological (9%) and gastrointestinal defects (8%). As expected, there was an association between Down syndrome and cardiac septal defects: 28 (87.5%) of the 32 patients with this syndrome had some form; of septal defect, and 16 of the 17 cases of atrioventricular (AV) canal defect occurred in patients with trisomy-21. Overall, the NCD were considered to be moderately severe or severe in 67 (84%) of the 80 affected patients. Indeed, 48 (60%) of the 80 patients (or 15% of the original group of 320 patients) had varying degrees of mental retardation. The results of this study confirm the well-recognized association between trisomy-21 and cardiac malformation, and emphasize the need to search for such defects in any child with Down phenotype, and suggest that there is a relatively high incidence of serious NCD in children with congenital heart disease. Nationwide studies on birth defects are needed, and if they yield data similar to those from our present study, appropriate prevention strategies will have to be considered.