Some Isolated Cardiac Malformations Can Be Related to Laterality Defects.

Research paper by Paolo P Versacci, Flaminia F Pugnaloni, Maria Cristina MC Digilio, Carolina C Putotto, Marta M Unolt, Giulio G Calcagni, Anwar A Baban, Bruno B Marino

Indexed on: 05 May '18Published on: 05 May '18Published in: Journal of cardiovascular development and disease


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 and . 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 —are commonly found in 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 , even in the setting of , may actually be considered in the pathogenetic field of laterality defects.