Atrioventricular septal defect: From embryonic development to long-term follow-up

Int J Cardiol. 2016 Jan 1:202:784-95. doi: 10.1016/j.ijcard.2015.09.081. Epub 2015 Sep 26.


Atrioventricular septal defect (AVSD) covers a spectrum of heart anomalies with a common atrioventricular connection and has an incidence of 4-5.3 per 10.000 live births. About half of the AVSDs occur in patient with Down syndrome. This review provides a bench to bedside overview of AVSD. Developmental aspects, nomenclature, anatomy, and classification of AVSD are discussed. Furthermore an overview of genetic and maternal risk factors for AVSD is provided, and available literature on (fetal) diagnosis, surgical techniques and follow-up is presented. Special attention is given to differences in developmental, anatomical and prognostic factors of AVSD between non-syndromic and Down syndrome patients.

Keywords: Atrioventricular septal defect; Congenital heart disease; Endocardial cushion defect.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Female
  • Follow-Up Studies
  • Global Health
  • Heart Septal Defects / embryology*
  • Heart Septal Defects / epidemiology*
  • Humans
  • Incidence
  • Pregnancy
  • Risk Factors
  • Time Factors

Supplementary concepts

  • Atrioventricular Septal Defect