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Congenital Heart Diseases: The Broken Heart pp 357–366Cite as

Molecular Pathways and Animal Models of Atrioventricular Septal Defect

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Abstract

The development of a properly functioning 4-chambered heart relies on the correct formation of the septal structures that separate the atrial and ventricular chambers. Perturbation of this septation process results in a spectrum of cardiac malformations involving the atrial and ventricular septal structures. Atrioventricular septal defects (AVSDs) form a class of congenital heart defects that are characterized by the presence of a primary atrial septal defect, a common atrioventricular junction, and frequently also a ventricular septal defect. While AVSD were historically considered to result from failure of the endocardial atrioventricular cushions to properly develop and fuse, more recent studies have determined that inhibition of the development of the dorsal mesenchymal protrusion (DMP), a derivative of the second heart field, can lead to AVSDs as well. In this chapter, we review what is currently known about the molecular mechanisms and pathways that are involved in DMP development and the pathogenesis of AVSD.

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Author information

Authors and Affiliations

  1. Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, SC, USA

    Andy Wessels

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  1. Andy Wessels
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Correspondence to Andy Wessels .

Editor information

Editors and Affiliations

  1. Cardiovascular Genetics, Charité - Universitätsmedizin Berlin , Berlin, Germany

    Silke Rickert-Sperling

  2. Developmental Biology, Inst. of Marseilles, Aix-Marseille Univ. , Marseille, France

    Robert G. Kelly

  3. Dpt. of Pediatrics Div.of Pediatric Card, Mayo Clinic College of Medicine, Rochester, Minnesota, USA

    David J. Driscoll

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Wessels, A. (2016). Molecular Pathways and Animal Models of Atrioventricular Septal Defect. In: Rickert-Sperling, S., Kelly, R., Driscoll, D. (eds) Congenital Heart Diseases: The Broken Heart. Springer, Vienna. https://doi.org/10.1007/978-3-7091-1883-2_27

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