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Some Isolated Cardiac Malformations Can Be Related to Laterality Defects

Human beings are characterized by a left–right asymmetric arrangement of their internal organs, and the heart is the first organ to break symmetry in the developing embryo. Aberrations in normal left–right axis determination during embryogenesis lead to a wide spectrum of abnormal internal lateralit...

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Autores principales: Versacci, Paolo, Pugnaloni, Flaminia, Digilio, Maria Cristina, Putotto, Carolina, Unolt, Marta, Calcagni, Giulio, Baban, Anwar, Marino, Bruno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6023464/
https://www.ncbi.nlm.nih.gov/pubmed/29724030
http://dx.doi.org/10.3390/jcdd5020024
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author Versacci, Paolo
Pugnaloni, Flaminia
Digilio, Maria Cristina
Putotto, Carolina
Unolt, Marta
Calcagni, Giulio
Baban, Anwar
Marino, Bruno
author_facet Versacci, Paolo
Pugnaloni, Flaminia
Digilio, Maria Cristina
Putotto, Carolina
Unolt, Marta
Calcagni, Giulio
Baban, Anwar
Marino, Bruno
author_sort Versacci, Paolo
collection PubMed
description Human beings are characterized by a left–right asymmetric arrangement of their internal organs, and the heart is the first organ to break symmetry in the developing embryo. Aberrations in normal left–right axis determination during embryogenesis lead to a wide spectrum of abnormal internal laterality phenotypes, including situs inversus and heterotaxy. In more than 90% of instances, the latter condition is accompanied by complex and severe cardiovascular malformations. Atrioventricular canal defect and transposition of the great arteries—which are particularly frequent in the setting of heterotaxy—are commonly found in situs solitus with or without genetic syndromes. Here, we review current data on morphogenesis of the heart in human beings and animal models, familial recurrence, and upstream genetic pathways of left–right determination in order to highlight how some isolated congenital heart diseases, very common in heterotaxy, even in the setting of situs solitus, may actually be considered in the pathogenetic field of laterality defects.
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spelling pubmed-60234642018-07-05 Some Isolated Cardiac Malformations Can Be Related to Laterality Defects Versacci, Paolo Pugnaloni, Flaminia Digilio, Maria Cristina Putotto, Carolina Unolt, Marta Calcagni, Giulio Baban, Anwar Marino, Bruno J Cardiovasc Dev Dis Review Human beings are characterized by a left–right asymmetric arrangement of their internal organs, and the heart is the first organ to break symmetry in the developing embryo. Aberrations in normal left–right axis determination during embryogenesis lead to a wide spectrum of abnormal internal laterality phenotypes, including situs inversus and heterotaxy. In more than 90% of instances, the latter condition is accompanied by complex and severe cardiovascular malformations. Atrioventricular canal defect and transposition of the great arteries—which are particularly frequent in the setting of heterotaxy—are commonly found in situs solitus with or without genetic syndromes. Here, we review current data on morphogenesis of the heart in human beings and animal models, familial recurrence, and upstream genetic pathways of left–right determination in order to highlight how some isolated congenital heart diseases, very common in heterotaxy, even in the setting of situs solitus, may actually be considered in the pathogenetic field of laterality defects. MDPI 2018-05-02 /pmc/articles/PMC6023464/ /pubmed/29724030 http://dx.doi.org/10.3390/jcdd5020024 Text en © 2018 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Versacci, Paolo
Pugnaloni, Flaminia
Digilio, Maria Cristina
Putotto, Carolina
Unolt, Marta
Calcagni, Giulio
Baban, Anwar
Marino, Bruno
Some Isolated Cardiac Malformations Can Be Related to Laterality Defects
title Some Isolated Cardiac Malformations Can Be Related to Laterality Defects
title_full Some Isolated Cardiac Malformations Can Be Related to Laterality Defects
title_fullStr Some Isolated Cardiac Malformations Can Be Related to Laterality Defects
title_full_unstemmed Some Isolated Cardiac Malformations Can Be Related to Laterality Defects
title_short Some Isolated Cardiac Malformations Can Be Related to Laterality Defects
title_sort some isolated cardiac malformations can be related to laterality defects
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6023464/
https://www.ncbi.nlm.nih.gov/pubmed/29724030
http://dx.doi.org/10.3390/jcdd5020024
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