Genetics of atrioventricular canal defects

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

Research output: Contribution to journalReview articlepeer-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.

Original languageEnglish
Article number61
JournalItalian Journal of Pediatrics
Issue number1
Publication statusPublished - May 13 2020


  • Atrioventricular canal defect
  • Congenital heart disease
  • Genetics

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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