Genome Medicine (Aug 2024)

Laterality, heterotaxy, and isolated congenital heart defects

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

DOI
https://doi.org/10.1186/s13073-024-01375-8
Journal volume & issue
Vol. 16, no. 1
pp. 1 – 3

Abstract

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Abstract 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.

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