Abstract
Background: Down syndrome (DS) is a common chromosomal disorder associated with congenital heart disease (CHD) which could lead to severe morbidity or mortality. Objective: To determine the frequency and spectrum of clinical features, CHD and other comorbidities in children with DS in a tertiary care centre in Nigeria. Method : Consecutive children with clinical features of DS were recruited. The frequency of clinical features and co-morbidities were noted. All the children had echocardiographic evaluation to identify those with CHD. Results : A total of 64 children was recruited of which 36 (56%) were male. Fifty one (80%) had CHD of which atrio-ventricular septal defect (AVSD) was the commonest, being found in 20 (39%) children. Common clinical features present were oblique eyes in 64 (100%), depressed nasal bridge in 60 (94%) low set ears in 53 (83%) and epicanthal folds in 50 (78%). Conclusions : Prevalence of CHD amongst DS children in this study was 80% with AVSD being the commonest. The most prevalent clinical features seen in these children were oblique eyes, epicanthal fold, depressed nasal bridge, low set ears, hypertelorism and hypotonia. Sri Lanka Journal of Child Health , 2018; 47 (1): 50-55
Highlights
Down syndrome (DS) is the commonest chromosomal disorder[1]
The most prevalent clinical features seen in these children were oblique eyes, epicanthal fold, depressed nasal bridge, low set ears, hypertelorism and hypotonia
The most common congenital heart disease (CHD) was patent ductus arteriosus (PDA), contrary to the report of the study done by Onalo and co-worker[10] in Abuja Nigeria where atrio-ventricular septal defect (AVSD) was the predominant CHD found amongst 20 children with DS studied
Summary
Down syndrome (DS) is the commonest chromosomal disorder[1]. A variety of congenital heart disease (CHD) has been described in patients with DS. Atrioventricular canal defect (AVSD) has been reported to be the commonest CHD seen in children with DS1,7 while others have reported a preponderance of ventricular septal defect[8]. Otaigbe et al[9] in Port Harcourt, Nigeria evaluated 31 children with DS, all of whom had CHD which included a fairly wide spectrum of both acyanotic and cyanotic CHD. The most common CHD was patent ductus arteriosus (PDA), contrary to the report of the study done by Onalo and co-worker[10] in Abuja Nigeria where AVSD was the predominant CHD found amongst 20 children with DS studied. Down syndrome (DS) is a common chromosomal disorder associated with congenital heart disease (CHD) which could lead to severe morbidity or mortality
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