title: Atrioventricular septal defect: From embryonic development to long-term follow-up.
abstract: Atrioventricular septal defect (AVSD) covers a spectrum of heart anomalies with a common atrioventricular connection and has an incidence of 4-5.3 per 10.000 live births. About half of the AVSDs occur in patient with Down syndrome. This review provides a bench to bedside overview of AVSD. Developmental aspects, nomenclature, anatomy, and classification of AVSD are discussed. Furthermore an overview of genetic and maternal risk factors for AVSD is provided, and available literature on (fetal) diagnosis, surgical techniques and follow-up is presented. Special attention is given to differences in developmental, anatomical and prognostic factors of AVSD between non-syndromic and Down syndrome patients.
authors.affiliation: Departments of Paediatric Cardiology and Anatomy & Embryology, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Emmeline E
authors.initials: EE
authors.lastname: Calkoen
authors.affiliation: Department of Thoracic surgery, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Mark G
authors.initials: MG
authors.lastname: Hazekamp
authors.affiliation: Departments of Paediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Nico A
authors.initials: NA
authors.lastname: Blom
authors.affiliation: Departments of Paediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Bernadette B L J
authors.initials: BB
authors.lastname: Elders
authors.affiliation: Departments of Cardiology and Anatomy & Embryology, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Adriana C
authors.initials: AC
authors.lastname: Gittenberger-de Groot
authors.affiliation: Department of Obstetrics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Monique C
authors.initials: MC
authors.lastname: Haak
authors.affiliation: Department of Anatomy & Embryology, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Margot M
authors.initials: MM
authors.lastname: Bartelings
authors.affiliation: Departments of Paediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Arno A W
authors.initials: AA
authors.lastname: Roest
authors.affiliation: Departments of Cardiology and Anatomy & Embryology, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: m.r.m.jongbloed@lumc.nl.
authors.forename: Monique R M
authors.initials: MR
authors.lastname: Jongbloed
mesh_terms: D005260:Female; D005500:Follow-Up Studies; D014943:Global Health; D006343:Heart Septal Defects / Q000196:embryology* / Q000453:epidemiology*; D006801:Humans; D015994:Incidence; D011247:Pregnancy; D012307:Risk Factors; D013997:Time Factors
keywords: Atrioventricular septal defect; Congenital heart disease; Endocardial cushion defect