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Published in: Italian Journal of Pediatrics 1/2020

Open Access 01-12-2020 | Trisomy 21 | Review

Genetics of atrioventricular canal defects

Authors: Flaminia Pugnaloni, Maria Cristina Digilio, Carolina Putotto, Enrica De Luca, Bruno Marino, Paolo Versacci

Published in: Italian Journal of Pediatrics | Issue 1/2020

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Abstract

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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Metadata
Title
Genetics of atrioventricular canal defects
Authors
Flaminia Pugnaloni
Maria Cristina Digilio
Carolina Putotto
Enrica De Luca
Bruno Marino
Paolo Versacci
Publication date
01-12-2020
Publisher
BioMed Central
Keyword
Trisomy 21
Published in
Italian Journal of Pediatrics / Issue 1/2020
Electronic ISSN: 1824-7288
DOI
https://doi.org/10.1186/s13052-020-00825-4

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