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Fetal Blood Flow and Genetic Mutations in Conotruncal Congenital Heart Disease

1
Department of Biology, University of Portland, Portland, OR 97203, USA
2
Department of Biomedical Engineering, Oregon Health & Science University, Portland, OR 97239, USA
*
Author to whom correspondence should be addressed.
Academic Editor: Lucile Houyel
J. Cardiovasc. Dev. Dis. 2021, 8(8), 90; https://doi.org/10.3390/jcdd8080090
Received: 27 June 2021 / Revised: 27 July 2021 / Accepted: 28 July 2021 / Published: 30 July 2021
In congenital heart disease, the presence of structural defects affects blood flow in the heart and circulation. However, because the fetal circulation bypasses the lungs, fetuses with cyanotic heart defects can survive in utero but need prompt intervention to survive after birth. Tetralogy of Fallot and persistent truncus arteriosus are two of the most significant conotruncal heart defects. In both defects, blood access to the lungs is restricted or non-existent, and babies with these critical conditions need intervention right after birth. While there are known genetic mutations that lead to these critical heart defects, early perturbations in blood flow can independently lead to critical heart defects. In this paper, we start by comparing the fetal circulation with the neonatal and adult circulation, and reviewing how altered fetal blood flow can be used as a diagnostic tool to plan interventions. We then look at known factors that lead to tetralogy of Fallot and persistent truncus arteriosus: namely early perturbations in blood flow and mutations within VEGF-related pathways. The interplay between physical and genetic factors means that any one alteration can cause significant disruptions during development and underscore our need to better understand the effects of both blood flow and flow-responsive genes. View Full-Text
Keywords: hemodynamics; cardiac malformations; flow-induced heart defects; VEGF; semaphorin signaling; cardiac neural crest cells; outflow tract hemodynamics; cardiac malformations; flow-induced heart defects; VEGF; semaphorin signaling; cardiac neural crest cells; outflow tract
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MDPI and ACS Style

Dyer, L.A.; Rugonyi, S. Fetal Blood Flow and Genetic Mutations in Conotruncal Congenital Heart Disease. J. Cardiovasc. Dev. Dis. 2021, 8, 90. https://doi.org/10.3390/jcdd8080090

AMA Style

Dyer LA, Rugonyi S. Fetal Blood Flow and Genetic Mutations in Conotruncal Congenital Heart Disease. Journal of Cardiovascular Development and Disease. 2021; 8(8):90. https://doi.org/10.3390/jcdd8080090

Chicago/Turabian Style

Dyer, Laura A., and Sandra Rugonyi. 2021. "Fetal Blood Flow and Genetic Mutations in Conotruncal Congenital Heart Disease" Journal of Cardiovascular Development and Disease 8, no. 8: 90. https://doi.org/10.3390/jcdd8080090

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