Molecular pathways and animal models of atrial septal defect

Patrick Y. Jay, Karl R. Degenhardt, Robert H. Anderson

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

3 Scopus citations


The seeming simplicity of the clinical presentation and management of an atrial septal defect belies the complexity of the developmental pathogenesis. Here, we describe the anatomic development of the atrial septum and the venous return to the atrial chambers. Recent experimental results suggest where genetic mutations could disrupt developmental steps to cause a defect within the oval fossa, the so-called secundum defect or other interatrial communication, such as the sinus venosus defect.

Original languageEnglish
Title of host publicationCongenital Heart Diseases
Subtitle of host publicationThe Broken Heart: Clinical Features, Human Genetics and Molecular Pathways
PublisherSpringer-Verlag Wien
Number of pages10
ISBN (Electronic)9783709118832
ISBN (Print)9783709118825
StatePublished - Jan 1 2015


  • ASD
  • Atrial septal defect
  • Atrial septation
  • Common atrium
  • Coronary sinus
  • Dorsal mesenchymal protrusion
  • Dorsal mesocardium
  • Down syndrome
  • Endocardial cushions
  • Endocardium
  • GATA4
  • Hox transcription factors
  • Knockout
  • MGRN1
  • Mesenchymal cap
  • NOS3
  • Ostium primum defect
  • Ostium secundum defect
  • Primary atrial foramen
  • Primary atrial septum
  • Second heart field
  • Sema3d
  • Semaphorin
  • Sinus venosus defect
  • TBX5
  • Vena cava


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