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Review
. 2024:1441:481-493.
doi: 10.1007/978-3-031-44087-8_25.

Molecular Pathways and Animal Models of Atrial Septal Defect

Rachel A Magnan  1 , Lillian Kang  2 , Karl R Degenhardt  3 , Robert H Anderson  4 , Patrick Y Jay  5
Affiliations
Review

Molecular Pathways and Animal Models of Atrial Septal Defect

Rachel A Magnan et al. Adv Exp Med Biol. 2024.

Abstract

The relative 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. Experimental models suggest how mutations and naturally occurring genetic variation could affect developmental steps to cause a defect within the oval fossa, the so-called secundum defect, or other interatrial communications, such as the sinus venosus defect or ostium primum defect.

Keywords: ACTC1; ASD; AVSD; Atrial septal defect; Atrial septation; Atrioventricular septal defect; Common atrium; Coronary sinusCoronarysinus; Dorsal mesenchymal protrusion; Dorsal mesocardium; Down syndrome; Endocardial cushions; Endocardium; GATA4GATA binding protein (GATA)GATA4; Hox transcription factors; Knockout; MGRN1; Mesenchymal cap; NOS3; Ostium primum defect; Ostium secundum defect; Primary atrial foramen; Primary atrial septumSeptumatrial; Second heart field; Sema3d; Semaphorin; Sinus venosus defect; TBX5.

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