Survival Analysis of Down Syndrome with Congenital Heart Disease: A 5-years Registry at QSNICH
Thanarat Layangool MD*, Chaisit Sangtawesin MD*, Tawatchai Kirawittaya MD*, Worakan Prompan MD*, Pimpak Prachasilchai MD*, Amornrat Pechdamrongsakul RN*
Affiliation : * Pediatric Cardiac center, Queen Sirikit National Institute of Child Health, Department of Medical Services, College of Medicine, Rangsit University, Bangkok, Thailand
Background : Down syndrome (DS) is the most common chromosomal abnormality in children. Atrio-ventricular septal
defect (AVSD) is the most common congenital heart disease (CHD) reported in DS. The mortality rate of DS with congenital
heart disease (CHD) is 5-7 times higher than normal population. The survival rate in DS has improved with time and has
reported up to 91% and 85% at one and ten years of age, respectively.
Objective : To study the prevalence of CHD, clinical course, treatment, the overall survival in patients with DS compare with
those who are associated with CHD.
Study Designs: DS registry, multidisciplinary approach, single centre.
Material and Method: All DS patients at QSNICH with parental signed consent were enrolled in the registry. The study was
conducted for 5 years starting from May 2007 to April 2012. All patients were followed-up according to schedule modified
from American Academic of Pediatrics (AAP) health supervision guideline. Standard treatment was given to all those children
with diagnosis of CHD and/or other associated diseases.
Results : Four hundred and two cases of DS were enrolled. Two cases were excluded due to the parental inconvenience. The
mode and mean age of the patients at registration were 1 and 7 months (1-62). Two hundred and seventy-one cases had an
initial echocardiographic diagnosis of CHD, which included 91 of Patent ductus arteriosus (PDA), 49 of Ventricular septal
defect (VSD), 34 of AVSD, 34 of secondum Atrial septal defect (ASD), 6 of Tetralogy of Fallot (TOF), 2 of Coractation of Aorta
(CoA), 11 of other CHD and 44 of combined lesions. During the follow-up period, spontaneous closure of PDA, VSD and ASD
occurred in 46, 12 and 15 cases, respectively. After the exclusion of those who had spontaneous closure, the prevalence rate
of CHD in DS was 49.8%. VSD was the most common lesion, slightly more than PDA. Ninety-eight cases underwent cardiac
surgery; including 39 of associated VSD, 24 of AVSD, 26 of PDA, 3 of TOF, 4 of CoA/AA repaired, one each of Cor triatriatum
and primum ASD. Twelve cases had catheter interventions, including PDA occlusion (10 cases), and 1 case of balloon
dilatation of re-CoA and coils embolization of isolated major aorto-pulmonary collateral artery. Seven cases were lost at
follow-up. By using the hospital information and National Health Security Office (NHSO) database, 47 infants died during the
follow-up period. The causes of death were immediate post cardiac surgery in 10 cases (AVSD in 9, VSD in 1) and not
associated with surgery in 37 cases including CHF in 8, pneumonia in 7, leukemia in 4, airway disease in 3, others 7 and
unknown 8 cases. The overall survival at 1and 5 years of age were 96% and 86%, respectively. DS with CHD had a
significantly lower survival rate than those without CHD (p<0.001).
Conclusion : According to this study, the prevalence rate of CHD in DS was high. VSD was the most common lesion and has
better prognosis than AVSD. The main cause of death was a cardiac problem. Follow-up patients by using modified AAP
guideline and standard treatment can improve their overall survival.
Keywords : Down syndrome, Congenital heart disease, Survival, Risk factor
