Genetics of atrioventricular canal defects

• Main Authors: Flaminia Pugnaloni, Maria Cristina Digilio, Carolina Putotto, Enrica De Luca, Bruno Marino, Paolo Versacci
• Format: Article
• Language: English
• Published: BMC 2020-05-01
• Series: Italian Journal of Pediatrics
• Subjects: Congenital heart disease; Atrioventricular canal defect; Genetics
• Online Access: http://link.springer.com/article/10.1186/s13052-020-00825-4

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.