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Genetic and flow anomalies in congenital heart disease

Congenital heart defects are the most common malformations in humans, affecting approximately 1% of newborn babies. While genetic causes of congenital heart disease have been studied, only less than 20% of human cases are clearly linked to genetic anomalies. The cause for the majority of the cases r...

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Autor principal: Rugonyi, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417695/
https://www.ncbi.nlm.nih.gov/pubmed/28480330
http://dx.doi.org/10.3934/genet.2016.3.157
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author Rugonyi, Sandra
author_facet Rugonyi, Sandra
author_sort Rugonyi, Sandra
collection PubMed
description Congenital heart defects are the most common malformations in humans, affecting approximately 1% of newborn babies. While genetic causes of congenital heart disease have been studied, only less than 20% of human cases are clearly linked to genetic anomalies. The cause for the majority of the cases remains unknown. Heart formation is a finely orchestrated developmental process and slight disruptions of it can lead to severe malformations. Dysregulation of developmental processes leading to heart malformations are caused by genetic anomalies but also environmental factors including blood flow. Intra-cardiac blood flow dynamics plays a significant role regulating heart development and perturbations of blood flow lead to congenital heart defects in animal models. Defects that result from hemodynamic alterations, however, recapitulate those observed in human babies, even those due to genetic anomalies and toxic teratogen exposure. Because important cardiac developmental events, such as valve formation and septation, occur under blood flow conditions while the heart is pumping, blood flow regulation of cardiac formation might be a critical factor determining cardiac phenotype. The contribution of flow to cardiac phenotype, however, is frequently ignored. More research is needed to determine how blood flow influences cardiac development and the extent to which flow may determine cardiac phenotype.
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spelling pubmed-54176952017-08-23 Genetic and flow anomalies in congenital heart disease Rugonyi, Sandra AIMS Genet Article Congenital heart defects are the most common malformations in humans, affecting approximately 1% of newborn babies. While genetic causes of congenital heart disease have been studied, only less than 20% of human cases are clearly linked to genetic anomalies. The cause for the majority of the cases remains unknown. Heart formation is a finely orchestrated developmental process and slight disruptions of it can lead to severe malformations. Dysregulation of developmental processes leading to heart malformations are caused by genetic anomalies but also environmental factors including blood flow. Intra-cardiac blood flow dynamics plays a significant role regulating heart development and perturbations of blood flow lead to congenital heart defects in animal models. Defects that result from hemodynamic alterations, however, recapitulate those observed in human babies, even those due to genetic anomalies and toxic teratogen exposure. Because important cardiac developmental events, such as valve formation and septation, occur under blood flow conditions while the heart is pumping, blood flow regulation of cardiac formation might be a critical factor determining cardiac phenotype. The contribution of flow to cardiac phenotype, however, is frequently ignored. More research is needed to determine how blood flow influences cardiac development and the extent to which flow may determine cardiac phenotype. 2016-08-23 2016 /pmc/articles/PMC5417695/ /pubmed/28480330 http://dx.doi.org/10.3934/genet.2016.3.157 Text en licensee AIMS Press. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0)
spellingShingle Article
Rugonyi, Sandra
Genetic and flow anomalies in congenital heart disease
title Genetic and flow anomalies in congenital heart disease
title_full Genetic and flow anomalies in congenital heart disease
title_fullStr Genetic and flow anomalies in congenital heart disease
title_full_unstemmed Genetic and flow anomalies in congenital heart disease
title_short Genetic and flow anomalies in congenital heart disease
title_sort genetic and flow anomalies in congenital heart disease
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417695/
https://www.ncbi.nlm.nih.gov/pubmed/28480330
http://dx.doi.org/10.3934/genet.2016.3.157
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