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.

Genetics of atrioventricular canal defects / Pugnaloni, F.; Digilio, M. C.; Putotto, C.; De Luca, E.; Marino, B.; Versacci, P.. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1720-8424. - 46:1(2020), p. 61. [10.1186/s13052-020-00825-4]

Genetics of atrioventricular canal defects

Pugnaloni F.;Putotto C.;De Luca E.;Marino B.;Versacci P.
2020

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.
2020
Atrioventricular canal defect; congenital heart disease; genetics
01 Pubblicazione su rivista::01a Articolo in rivista
Genetics of atrioventricular canal defects / Pugnaloni, F.; Digilio, M. C.; Putotto, C.; De Luca, E.; Marino, B.; Versacci, P.. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1720-8424. - 46:1(2020), p. 61. [10.1186/s13052-020-00825-4]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1443515
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