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Genetics of atrioventricular canal defects

Atrioventricular canal defect (AVCD) represents a quite common congenital heart defect (CHD) accounting for 7.4% of all cardiac malformations. AVCD is a very heterogeneous malformation that can occur as a phenotypical cardiac aspect in the context of different genetic syndromes but also as an isolat...

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Autores principales: Pugnaloni, Flaminia, Digilio, Maria Cristina, Putotto, Carolina, De Luca, Enrica, Marino, Bruno, Versacci, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7222302/
https://www.ncbi.nlm.nih.gov/pubmed/32404184
http://dx.doi.org/10.1186/s13052-020-00825-4
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author Pugnaloni, Flaminia
Digilio, Maria Cristina
Putotto, Carolina
De Luca, Enrica
Marino, Bruno
Versacci, Paolo
author_facet Pugnaloni, Flaminia
Digilio, Maria Cristina
Putotto, Carolina
De Luca, Enrica
Marino, Bruno
Versacci, Paolo
author_sort Pugnaloni, Flaminia
collection PubMed
description Atrioventricular canal defect (AVCD) represents a quite common congenital heart defect (CHD) accounting for 7.4% of all cardiac malformations. AVCD is a very heterogeneous malformation that can occur as a phenotypical cardiac aspect in the context of different genetic syndromes but also as an isolated, non-syndromic cardiac defect. AVCD has also been described in several pedigrees suggesting a pattern of familiar recurrence. Targeted Next Generation Sequencing (NGS) techniques are proved to be a powerful tool to establish the molecular heterogeneity of AVCD. Given the complexity of cardiac embryology, it is not surprising that multiple genes deeply implicated in cardiogenesis have been described mutated in patients with AVCD. This review attempts to examine the recent advances in understanding the molecular basis of this complex CHD in the setting of genetic syndromes or in non-syndromic patients.
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spelling pubmed-72223022020-05-20 Genetics of atrioventricular canal defects Pugnaloni, Flaminia Digilio, Maria Cristina Putotto, Carolina De Luca, Enrica Marino, Bruno Versacci, Paolo Ital J Pediatr Review Atrioventricular canal defect (AVCD) represents a quite common congenital heart defect (CHD) accounting for 7.4% of all cardiac malformations. AVCD is a very heterogeneous malformation that can occur as a phenotypical cardiac aspect in the context of different genetic syndromes but also as an isolated, non-syndromic cardiac defect. AVCD has also been described in several pedigrees suggesting a pattern of familiar recurrence. Targeted Next Generation Sequencing (NGS) techniques are proved to be a powerful tool to establish the molecular heterogeneity of AVCD. Given the complexity of cardiac embryology, it is not surprising that multiple genes deeply implicated in cardiogenesis have been described mutated in patients with AVCD. This review attempts to examine the recent advances in understanding the molecular basis of this complex CHD in the setting of genetic syndromes or in non-syndromic patients. BioMed Central 2020-05-13 /pmc/articles/PMC7222302/ /pubmed/32404184 http://dx.doi.org/10.1186/s13052-020-00825-4 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Review
Pugnaloni, Flaminia
Digilio, Maria Cristina
Putotto, Carolina
De Luca, Enrica
Marino, Bruno
Versacci, Paolo
Genetics of atrioventricular canal defects
title Genetics of atrioventricular canal defects
title_full Genetics of atrioventricular canal defects
title_fullStr Genetics of atrioventricular canal defects
title_full_unstemmed Genetics of atrioventricular canal defects
title_short Genetics of atrioventricular canal defects
title_sort genetics of atrioventricular canal defects
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7222302/
https://www.ncbi.nlm.nih.gov/pubmed/32404184
http://dx.doi.org/10.1186/s13052-020-00825-4
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