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Laterality, heterotaxy, and isolated congenital heart defects

  • Carolina Putotto,
  • Flaminia Pugnaloni,
  • Marta Unolt,
  • Giulio Calcagni,
  • Paolo Versacci,
  • Bruno Marino

摘要

To date, the role of NODAL in normal and abnormal L-R asymmetry has been well established. In a recent paper, mutations of this gene have been reported in heterotaxy but also in transposition with D- or L-ventricular loop. The effects of NODAL and other laterality genes can be recognized separately in all three cardiac segments: for topology and septation of the atria, for ventricular looping, and for spiralization and alignment of the great arteries.