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  • Title: Congenital heart diseases and other major anomalies in patients with Down syndrome.
    Author: Abbag FI.
    Journal: Saudi Med J; 2006 Feb; 27(2):219-22. PubMed ID: 16501680.
    Abstract:
    OBJECTIVE: To determine the frequency and types of congenital heart diseases (CHDs) and other congenital anomalies among Down syndrome (DS) patients, and the short-term survival rate. METHODS: This is a retrospective review of 98 DS patients seen in Aseer Central Hospital from July 1994 to June 2005. The clinicians notes, echocardiography reports and operative notes were examined. RESULTS: The mean follow up period was 30 +/- 40.1 months. Ninety-three patients had echocardiography; CHDs were found in 57 patients (61.3%). Ventricular septal defect (VSD) was the most common (33.3%) followed by atrioventricular septal defect (22.8%), atrial septal defect (21.1%), patent ductus arteriosus (14%) and tetralogy of Fallot (5.3%). Three patients (5.3%) developed inoperable obstructive pulmonary vascular disease (OPVD) and 3 were deemed inoperable for other reasons. The CHD was clinically suspected in 96%. The most common noncardiac anomalies were gastrointestinal, affecting 22 patients (22.4%): duodenal atresia 8 patients, imperforate anus 7 patients and Hirschsprung disease 4 patients. Sixteen patients (16.3%) died at a mean age of 19 months, 15 of them (93.8%) had anomalies. CONCLUSION: The most common CHD in DS is VSD and the most common noncardiac anomaly is gastrointestinal. Down syndrome patients should be screened by echocardiography early in life to avoid OPVD. The mortality in DS is highest among those with congenital anomalies, and therefore, early intervention is crucial.
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