Cardiac abnormalities of Sudanese patients with Down's syndrome and their short-term outcome

Abstract

Background: Congential heart disease (CHD) is an important cause of morbidity and mortality in patients with Down's syndrome (DS).

Methods: All patients with DS seen at the Sudan Heart Centre from July 2004 to November 2007 were included in the study. All patients were examined clinically and echocardiographically, and cardiac catheterisation was carried out in selected patients. All patients were prospectively followed up.

Results: In the study period, 1 566 patients were evaluated for heart disease. Of these, 80 patients with DS were identified (5%). Their ages ranged from 15 days to 18 years. Cardiac abnormalities included atrioventricular septal defect (AVSD) in 38 patients (48%), with the complete form in 25, a partial form in seven, AVSD with intact atrial septum in one, and complex AVSD in four patients. In one patient there was AVSD with right atrioventricular valve malformation with severe valve regurgitation and functional pulmonary atresia. The other main lesions were ventricular septal defect (VSD) in 19 patients (23%) and tetralogy of Fallot (TOF) in five (6%). Cardiac catheterisation was done in four patients with AVSD to measure pulmonary pressures and resistance, and in one patient with patent ductus arteriosus for device closure. Ten percent of the patients had Eisenmenger's syndrome at the time of presentation. Only 15% of patients who were in need of surgery were operated on; all had an uneventful postoperative course and a good outcome at a mean follow-up period of one year.

Conclusion: The pattern of CHD in Sudanese patients with DS was comparable with that in the literature, including the rare occurrence of AVSD with intact atrial septum. In addition, we described an unreported association with right atrioventricular valve malformation. Although there was a significant delay in diagnosis and surgery, surgical results and short-term follow up were good.

Fig. 1.

Four-chamber view with aorta (Ao), showing measurement of the left ventricle inlet- (single-head arrow) to-outlet (double-head arrow) ratio of 0.7:1 in a patient with no primum ASD.

Fig. 2.

Short-axis view at the level of the left atrioventricular valve, showing a small posterior (mural) leaflet (arrows), which guards only 43% of the valve orifice. A ‘cleft’ is seen in the anterior leaflet (star).

Fig. 3.

Down’s syndrome with central cyanosis and periorbital oedema.

Fig. 4.

Four-chamber view showing a common atrium, abnormal right atrioventricular valve with tethered septal leaflet, dysplastic leaflets and co-aptation point apical displacement.