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Review
. 2012:100:253-77.
doi: 10.1016/B978-0-12-387786-4.00008-7.

Transcription factor pathways and congenital heart disease

David J McCulley  1 , Brian L Black
Affiliations
Review

Transcription factor pathways and congenital heart disease

David J McCulley et al. Curr Top Dev Biol. 2012.

Abstract

Congenital heart disease is a major cause of morbidity and mortality throughout life. Mutations in numerous transcription factors have been identified in patients and families with some of the most common forms of cardiac malformations and arrhythmias. This review discusses transcription factor pathways known to be important for normal heart development and how abnormalities in these pathways have been linked to morphological and functional forms of congenital heart defects. A comprehensive, current list of known transcription factor mutations associated with congenital heart disease is provided, but the review focuses primarily on three key transcription factors, Nkx2-5, GATA4, and Tbx5, and their known biochemical and genetic partners. By understanding the interaction partners, transcriptional targets, and upstream activators of these core cardiac transcription factors, additional information about normal heart formation and further insight into genes and pathways affected in congenital heart disease should result.

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Figures

Figure 1
Figure 1
Schematic representations of several stages of mammalian heart development with key events in mouse and human heart development denoted. Mouse development is denoted in embryonic days (E). Ao, aorta; AVC, atrioventricular canal; CCS, cardiac conduction system; CM, cardiac mesoderm; LA, left atrium; LV, left ventricle; NCC, neural crest cells; OFT, outflow tract; PA, pulmonary artery; RA, right atrium; RV, right ventricle; SAN, sinoatrial node; SV, sinus venosus; V ventricle.
Figure 2
Figure 2
Transcription factor pathways discussed in this review that are involved in myocardial development and heart morphogenesis
Figure 3
Figure 3
Transcription factor pathways discussed in this review that are involved in cardiac conduction system development, maturation, and function.
See this image and copyright information in PMC

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