Cargando…
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...
Autores principales: | , , , , , , , |
---|---|
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 |
_version_ | 1783335875081404416 |
---|---|
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. |
format | Online Article Text |
id | pubmed-6023464 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT versaccipaolo someisolatedcardiacmalformationscanberelatedtolateralitydefects AT pugnaloniflaminia someisolatedcardiacmalformationscanberelatedtolateralitydefects AT digiliomariacristina someisolatedcardiacmalformationscanberelatedtolateralitydefects AT putottocarolina someisolatedcardiacmalformationscanberelatedtolateralitydefects AT unoltmarta someisolatedcardiacmalformationscanberelatedtolateralitydefects AT calcagnigiulio someisolatedcardiacmalformationscanberelatedtolateralitydefects AT babananwar someisolatedcardiacmalformationscanberelatedtolateralitydefects AT marinobruno someisolatedcardiacmalformationscanberelatedtolateralitydefects |