Clinical outcome in Down syndrome patients with congenital heart disease

Background: Long-term complications of Down syndrome patients with congenital heart disease are poorly known. Methods: We carried out a retrospective study of Down syndrome patients with congenital heart disease and patients with atrioventricular septal defect (AVSD) with and without Down syndrome. Results: Between 2004 and 2008, 317 patients with congenital heart disease were followed-up in the Adult Congenital Heart Disease Unit. Of these patients, 19 (6%) with an average age of 26.8 +/- 8.1 years had Down syndrome. AVSD was the most frequent congenital heart disease (63%) followed by ventricular septal defect (26%). Ten patients (53%) were operated on during childhood. Three of these patients required reoperation during adulthood (two patients due to left ventricular outflow tract obstruction and one patient due to left AV valve insufficiency). Four patients (21%) had Eisenmenger syndrome with improvement of functional class in those treated with bosentan, two patients (10.5%) had bacterial endocarditis and two patients (10.5%) died. No significant differences were seen in left AV valve insufficiency between AVSD defect in patients with and without Down syndrome (1.5 +/- 0.9 vs. 1.7 +/- 0.8, p = 0.689). Conclusions: Left AV valve insufficiency and left ventricular outflow tract obstruction were the most frequent long-term complications requiring surgical reintervention in patients with AVSD.