%0 Journal Article
%T Some Isolated Cardiac Malformations Can Be Related to Laterality Defects
%A Anwar Baban
%A Bruno Marino
%A Carolina Putotto
%A Flaminia Pugnaloni
%A Giulio Calcagni
%A Maria Cristina Digilio
%A Marta Unolt
%A Paolo Versacci
%J -
%D 2018
%R https://doi.org/10.3390/jcdd5020024
%X Abstract Human beings are characterized by a left¨Cright asymmetric arrangement of their internal organs, and the heart is the first organ to break symmetry in the developing embryo. Aberrations in normal left¨Cright 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¡ªwhich are particularly frequent in the setting of heterotaxy¡ªare 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¨Cright 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. View Full-Tex
%K congenital heart disease
%K genetics
%K heterotaxy
%K atrioventricular canal defect
%K transposition of the great arteries
%U https://www.mdpi.com/2308-3425/5/2/24