Laterality, heterotaxy, and isolated congenital heart defects
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.
Authors
- Marta Unolt (ORCID: https://orcid.org/0000-0002-4133-714X)
- Paolo Versacci (ORCID: https://orcid.org/0000-0002-4484-4729)
- Flaminia Pugnaloni (ORCID: https://orcid.org/0000-0001-9509-6778)
- Bruno Marino (ORCID: https://orcid.org/0000-0002-6776-3876)
- Carolina Putotto (ORCID: https://orcid.org/0000-0003-3778-3769)
- Giulio Calcagni (ORCID: https://orcid.org/0000-0003-3187-0829)
Institutions
- Bambino Gesù Children's Hospital (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Sapienza University of Rome (IT)
Publication Details
- Journal
- Genome Medicine
- Published
- 2024-08-13
- DOI
- https://doi.org/10.1186/s13073-024-01375-8
- Citations
- 5
- Primary Topic
- Congenital Heart Disease Studies
- Type
- article
- Field-Weighted Citation Impact
- 1.93