title: Types and distribution of congenital heart defects associated with trisomy 21 in Singapore.
abstract: OBJECTIVE
  Atrioventricular septal defect (AVSD) is widely accepted as the most common type of congenital heart defect in trisomy 21. Most of these studies, however, were conducted in Caucasian communities. The few Asian studies that had been conducted on this subject yielded different results. In the largest study of its kind in Asia, we described the distribution of types of congenital heart defects associated with trisomy 21 in Singapore.
  
  
  METHODS
  Five hundred and eighty-eight patients with trisomy 21 born in 1996-2010, and confirmed by karyotyping, were included in the study. The diagnosis of congenital heart defects were made on echocardiography. Variables extracted for analysis were demographics (race and gender) and the types of congenital heart defects. Except for complex cyanotic heart defects, haemodynamically significant lesions were accounted for separately in cases where more than one type of congenital heart defect coexisted in a patient.
  
  
  RESULTS
  Ventricular septal defect (VSD) (39.2%) was the most common congenital heart defect associated with trisomy 21 in our study, followed by patent ductus arteriosus (34.3%), secundum atrial septal defect (23.4%) and AVSD (15.6%). This study validates previous smaller Asian studies identifying VSD as the most common cardiac lesion associated with trisomy 21. A high proportion (25.0%) of trisomy 21 patients with tetralogy of Fallot also had AVSDs. Coarctation of the aorta was uncommon.
  
  
  CONCLUSIONS
  VSD was the most common congenital heart defect seen in trisomy 21 in our study. A high proportion (25.0%) of trisomy 21 patients with tetralogy of Fallot also had AVSDs.
authors: Yong Loo Lin School of Medicine, Singapore.
authors: Monica
authors: M
authors: Tan
authors: Cunzhi
authors: C
authors: Xu
authors: Sarah K R
authors: SK
authors: Sim
authors: Adeline L H
authors: AL
authors: Seow
authors: Teng Hong
authors: TH
authors: Tan
authors: Swee Chye
authors: SC
authors: Quek
mesh_terms: D004314:Down Syndrome / Q000453:epidemiology* / Q000235:genetics; D004452:Echocardiography; D005260:Female; D006330:Heart Defects, Congenital / Q000145:classification* / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D008297:Male; D012189:Retrospective Studies; D012846:Singapore / Q000453:epidemiology