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06-09-2024 | CSF Drainage | Correspondence

Variable Effects of Laterality Genes on Disharmony Between Different Thoraco-Abdominal Organs and Between Individual Cardiac Segments

Authors: Carolina Putotto, Paolo Versacci, Bruno Marino

Published in: Pediatric Cardiology

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Abstract

A significant percentage of patients with heterotaxy show disharmony between abdominal, bronchopulmonary and atrial situs. This finding is interesting in light of the variable effects of ciliary and laterality genes on different organs and different cardiac segments. Defects in ciliary and laterality genes that usually result in situs inversus or heterotaxy, may occasionally act separately at ventricular and/or great arteries segment, even in patients with normal viscero-atrial situs solitus. Some patients with situs solitus and transposition of great arteries or congenitally corrected transposition of great arteries have been shown to represent the result of partial segmental effects of laterality genes alterations. Specific effects of defects in laterality genes can explain disharmony between thoraco-abdominal organs and heart segments.
Literature
2.
go back to reference Yim D, Nagata H, Lam CZ, Grosse-Wortmann L, Seed M, Jaeggi E, Yoo SJ (2018) Disharmonious patterns of heterotaxy and isomerism: how often are the classic patterns breached? Circ Cardiovasc Imaging 11(2):e006917CrossRefPubMed Yim D, Nagata H, Lam CZ, Grosse-Wortmann L, Seed M, Jaeggi E, Yoo SJ (2018) Disharmonious patterns of heterotaxy and isomerism: how often are the classic patterns breached? Circ Cardiovasc Imaging 11(2):e006917CrossRefPubMed
3.
go back to reference Oreto L, Mandraffino G, Ciliberti P, Santangelo TP, Romeo P, Celona A, Gitto P, Galletti L, Iorio FS, Di Pino A, Secinaro A, Guccione P, Anderson RH, Agati S (2023) Classifying cardiac anomalies in right and left isomerism: concordant and discordant patterns. Congenit Heart Dis 18(1):97–111CrossRef Oreto L, Mandraffino G, Ciliberti P, Santangelo TP, Romeo P, Celona A, Gitto P, Galletti L, Iorio FS, Di Pino A, Secinaro A, Guccione P, Anderson RH, Agati S (2023) Classifying cardiac anomalies in right and left isomerism: concordant and discordant patterns. Congenit Heart Dis 18(1):97–111CrossRef
4.
go back to reference Little RB, Norris DP (2021) Right, left and cilia: how asymmetry is established. Semin Cell Dev Biol 110:11–18CrossRefPubMed Little RB, Norris DP (2021) Right, left and cilia: how asymmetry is established. Semin Cell Dev Biol 110:11–18CrossRefPubMed
5.
go back to reference Tessari A, Pietrobon M, Notte A, Cifelli G, Gage PJ, Schneider MD, Lembo G, Campione M (2008) Myocardial Pitx2 differentially regulates the left atrial identity and ventricular asymmetric remodeling programs. Circ Res 102(7):813–822CrossRefPubMed Tessari A, Pietrobon M, Notte A, Cifelli G, Gage PJ, Schneider MD, Lembo G, Campione M (2008) Myocardial Pitx2 differentially regulates the left atrial identity and ventricular asymmetric remodeling programs. Circ Res 102(7):813–822CrossRefPubMed
6.
go back to reference Desgrange A, Le Garrec JF, Bernheim S, Bønnelykke TH, Meilhac SM (2020) Transient nodal signaling in left precursors coordinates opposed asymmetries shaping the heart loop. Dev Cell 55(4):413-431.e6CrossRefPubMed Desgrange A, Le Garrec JF, Bernheim S, Bønnelykke TH, Meilhac SM (2020) Transient nodal signaling in left precursors coordinates opposed asymmetries shaping the heart loop. Dev Cell 55(4):413-431.e6CrossRefPubMed
7.
go back to reference Bajolle F, Zaffran S, Kelly RG, Hadchouel J, Bonnet D, Brown NA, Buckingham ME (2006) Rotation of the myocardial wall of the outflow tract is implicated in the normal positioning of the great arteries. Circ Res 98(3):421–428CrossRefPubMed Bajolle F, Zaffran S, Kelly RG, Hadchouel J, Bonnet D, Brown NA, Buckingham ME (2006) Rotation of the myocardial wall of the outflow tract is implicated in the normal positioning of the great arteries. Circ Res 98(3):421–428CrossRefPubMed
8.
go back to reference Casey B, Cuneo BF, Vitali C, van Hecke H, Barrish J, Hicks J, Ballabio A, Hoo JJ (1996) Autosomal dominant transmission of familial laterality defects. Am J Med Genet 61(4):325–328CrossRefPubMed Casey B, Cuneo BF, Vitali C, van Hecke H, Barrish J, Hicks J, Ballabio A, Hoo JJ (1996) Autosomal dominant transmission of familial laterality defects. Am J Med Genet 61(4):325–328CrossRefPubMed
9.
go back to reference De Luca A, Sarkozy A, Consoli F, Ferese R, Guida V, Dentici ML et al (2010) Familial transposition of the great arteries caused by multiple mutations in laterality genes. Heart 96(9):673–677CrossRefPubMed De Luca A, Sarkozy A, Consoli F, Ferese R, Guida V, Dentici ML et al (2010) Familial transposition of the great arteries caused by multiple mutations in laterality genes. Heart 96(9):673–677CrossRefPubMed
10.
go back to reference Dardas Z, Fatih JM, Jolly A, Dawood M, Du H, Grochowski CM et al (2024) NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome Med 16(1):53CrossRefPubMedPubMedCentral Dardas Z, Fatih JM, Jolly A, Dawood M, Du H, Grochowski CM et al (2024) NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome Med 16(1):53CrossRefPubMedPubMedCentral
11.
go back to reference Versacci P, Pugnaloni F, Digilio MC, Putotto C, Unolt M, Calcagni G et al (2018) some isolated cardiac malformations can be related to laterality defects. J Cardiovasc Dev Dis 5(2):24PubMedPubMedCentral Versacci P, Pugnaloni F, Digilio MC, Putotto C, Unolt M, Calcagni G et al (2018) some isolated cardiac malformations can be related to laterality defects. J Cardiovasc Dev Dis 5(2):24PubMedPubMedCentral
12.
go back to reference Liu X, Chen W, Li W, Priest JR, Fu Y, Pang K, Ma B, Han B, Liu X, Hu S, Zhou Z (2020) Exome-based case-control analysis highlights the pathogenic role of ciliary genes in transposition of the great arteries. Circ Res 126(7):811–821CrossRefPubMed Liu X, Chen W, Li W, Priest JR, Fu Y, Pang K, Ma B, Han B, Liu X, Hu S, Zhou Z (2020) Exome-based case-control analysis highlights the pathogenic role of ciliary genes in transposition of the great arteries. Circ Res 126(7):811–821CrossRefPubMed
15.
go back to reference Clark EB (1996) Pathogenetic mechanisms of congenital cardiovascular malformations revisited. Semin Perinatol 20(6):465–472CrossRefPubMed Clark EB (1996) Pathogenetic mechanisms of congenital cardiovascular malformations revisited. Semin Perinatol 20(6):465–472CrossRefPubMed
16.
go back to reference Zahid M, Bais A, Tian X, Devine W, Lee DM, Yau C et al (2018) Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries. PLoS ONE 13(2):e0191605CrossRefPubMedPubMedCentral Zahid M, Bais A, Tian X, Devine W, Lee DM, Yau C et al (2018) Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries. PLoS ONE 13(2):e0191605CrossRefPubMedPubMedCentral
Metadata
Title
Variable Effects of Laterality Genes on Disharmony Between Different Thoraco-Abdominal Organs and Between Individual Cardiac Segments
Authors
Carolina Putotto
Paolo Versacci
Bruno Marino
Publication date
06-09-2024
Publisher
Springer US
Keyword
CSF Drainage
Published in
Pediatric Cardiology
Print ISSN: 0172-0643
Electronic ISSN: 1432-1971
DOI
https://doi.org/10.1007/s00246-024-03639-x

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