Types and distribution of congenital heart defects associated with trisomy 21 in Singapore

Authors


  • Conflict of interest: None declared.
  • Statements:
  • The content of this paper has not been published or submitted for publication elsewhere.
  • All authors have contributed significantly and that all authors are in agreement with the content of the manuscript.
  • The protocol for this research project has been approved by the Singapore National Health Group Domain Specific Review Board (DSRB) whose requirements are based on Declaration of Helsinki and the ethical principles in the Belmont Report. The DSRB requirements are also compliant with the guidelines stipulated by the Bioethics Advisory Committee.

Correspondence: Associate Professor Swee Chye Quek, Division of Cardiology, Department of Paediatrics, National University of Singapore, 1E Kent Ridge Road, Singapore. Fax: +65 67797486; email: swee_chye_quek@nuhs.edu.sg

Abstract

Aim

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.

Conclusion

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.

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