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 abnorma...
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doaj-612a165fd95f4818bd0dd0e337ad94962020-11-24T22:31:17ZengMDPI AGJournal of Cardiovascular Development and Disease2308-34252018-05-01522410.3390/jcdd5020024jcdd5020024Some Isolated Cardiac Malformations Can Be Related to Laterality DefectsPaolo Versacci0Flaminia Pugnaloni1Maria Cristina Digilio2Carolina Putotto3Marta Unolt4Giulio Calcagni5Anwar Baban6Bruno Marino7Department of Pediatrics, Sapienza University of Rome, 00161 Rome, ItalyDepartment of Pediatrics, Sapienza University of Rome, 00161 Rome, ItalyGenetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital and Research Institute, 00165 Rome, ItalyDepartment of Pediatrics, Sapienza University of Rome, 00161 Rome, ItalyDepartment of Pediatrics, Sapienza University of Rome, 00161 Rome, ItalyDepartment of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children’s Hospital and Research Institute, 00165 Rome, ItalyDepartment of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children’s Hospital and Research Institute, 00165 Rome, ItalyDepartment of Pediatrics, Sapienza University of Rome, 00161 Rome, ItalyHuman 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.http://www.mdpi.com/2308-3425/5/2/24congenital heart diseasegeneticsheterotaxyatrioventricular canal defecttransposition of the great arteries |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Paolo Versacci Flaminia Pugnaloni Maria Cristina Digilio Carolina Putotto Marta Unolt Giulio Calcagni Anwar Baban Bruno Marino |
spellingShingle |
Paolo Versacci Flaminia Pugnaloni Maria Cristina Digilio Carolina Putotto Marta Unolt Giulio Calcagni Anwar Baban Bruno Marino Some Isolated Cardiac Malformations Can Be Related to Laterality Defects Journal of Cardiovascular Development and Disease congenital heart disease genetics heterotaxy atrioventricular canal defect transposition of the great arteries |
author_facet |
Paolo Versacci Flaminia Pugnaloni Maria Cristina Digilio Carolina Putotto Marta Unolt Giulio Calcagni Anwar Baban Bruno Marino |
author_sort |
Paolo Versacci |
title |
Some Isolated Cardiac Malformations Can Be Related to Laterality Defects |
title_short |
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_sort |
some isolated cardiac malformations can be related to laterality defects |
publisher |
MDPI AG |
series |
Journal of Cardiovascular Development and Disease |
issn |
2308-3425 |
publishDate |
2018-05-01 |
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. |
topic |
congenital heart disease genetics heterotaxy atrioventricular canal defect transposition of the great arteries |
url |
http://www.mdpi.com/2308-3425/5/2/24 |
work_keys_str_mv |
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