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- Title
Genetics of atrioventricular canal defects.
- Authors
Pugnaloni, Flaminia; Digilio, Maria Cristina; Putotto, Carolina; De Luca, Enrica; Marino, Bruno; Versacci, Paolo
- 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.
- Subjects
CONGENITAL heart disease; ENDOCARDIAL cushion defects; GENES; MEDICAL technology; GENETIC mutation; MOLECULAR pathology; PHENOTYPES; SEQUENCE analysis
- Publication
Italian Journal of Pediatrics, 2020, Vol 46, Issue 1, p1
- ISSN
1720-8424
- Publication type
Article
- DOI
10.1186/s13052-020-00825-4