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. 2024 Aug 13;16(1):100.
doi: 10.1186/s13073-024-01375-8.

Laterality, heterotaxy, and isolated congenital heart defects : The genetic basis of the segmental nature of the heart

Carolina Putotto  1 , Flaminia Pugnaloni  2 , Marta Unolt  3 , Giulio Calcagni  3 , Paolo Versacci  4 , Bruno Marino  4
Affiliations

Laterality, heterotaxy, and isolated congenital heart defects : The genetic basis of the segmental nature of the heart

Carolina Putotto et al. Genome Med. .

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.

Keywords: Congenital heart disease; Heterotaxy; Laterality defects; Laterality genes; Nodal.

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Conflict of interest statement

The authors declare no competing interests.

References

    1. Dardas Z, Fatih JM, Jolly A, Dawood M, Du H, Grochowski CM, et al. NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome Med. 2024;16(1):53. 10.1186/s13073-024-01312-9 - DOI - PMC - PubMed
    1. Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, et al. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet. 2009;18(5):861–71. 10.1093/hmg/ddn411 - DOI - PMC - PubMed
    1. Putotto C, Caruso E, Marino B, Digilio MC, Novelli A, Agati S. Anatomically corrected malposition of the great arteries (S,L,D) with mutation of Nodal gene. Cardiol Young. 2022:1–3. 10.1017/S1047951122001585. Epub ahead of print. - PubMed
    1. Versacci P, Digilio MC, Oliverio M, Dallapiccola B, Marino B. The heart and shell. Anatomical and genetic similarities. Am Heart J. 2011;161(4):647–9. 10.1016/j.ahj.2010.12.023 - DOI - PubMed
    1. Digilio MC, Pugnaloni F, De Luca A, Calcagni G, Baban A, Dentici ML, et al. Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog. Clin Genet. 2019;95(2):268–76. 10.1111/cge.13375 - DOI - PubMed

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