A single misstep in cardiac development explains the co-occurrence of tetralogy of fallot and complete atrioventricular septal defect in Down syndrome

J Pediatr. 2014 Jul;165(1):194-6. doi: 10.1016/j.jpeds.2014.02.065. Epub 2014 Apr 8.

Abstract

Tetralogy of Fallot and a complete atrioventricular septal defect are thought to arise by distinct mechanisms, yet their co-occurrence is a recognized association. Analysis of the prevalence of co-occurrence in Down syndrome suggests a common developmental basis. Trisomy 21 may perturb cardiac progenitor cells before they enter the heart tube.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Down Syndrome / complications*
  • Down Syndrome / physiopathology
  • Heart Septal Defects
  • Humans
  • Infant
  • Mitral Valve Insufficiency / complications*
  • Mitral Valve Insufficiency / epidemiology
  • Mitral Valve Insufficiency / physiopathology
  • Tetralogy of Fallot / complications*
  • Tetralogy of Fallot / epidemiology
  • Tetralogy of Fallot / physiopathology

Supplementary concepts

  • Complete atrioventricular septal defect