caa a22 4500 445824182 CHVBK 20180317145254.0 cr unu---uuuuu 170323e20111001xx s 000 0 eng 10.1007/s00246-011-0006-9 doi (NATIONALLICENCE)springer-10.1007/s00246-011-0006-9 Ellis-van Creveld Syndrome and Congenital Heart Defects: Presentation of an Additional 32 Cases [Elektronische Daten] [Christine Hills, Lazaros Kochilas, Lisa Schimmenti, James Moller] Ellis-van Creveld (EVC) syndrome is a rare genetic abnormality that has been linked to a mutation in the EVC or EVC2 genes. Common atrium (CA) is an uncommon cardiac malformation, and yet it is commonly found in patients with EVC. We performed a retrospective review of the cases submitted to the Pediatric Cardiac Care Consortium (PCCC) between 1982 and 2007. A review of the English-language literature for previously published cases, as well as current genetic research findings, was also performed. Thirty-two pediatric patients with congenital heart disease (CHD) and EVC syndrome were identified in the PCCC database. Twenty-eight (88%) had an endocardial cushion defect, with 15 of these having primary failure of atrial septation resulting in CA. Persistent left superior vena cava (LSVC) and pulmonary venous connection abnormalities were common. The incidence of persistent LSVC and pulmonary venous abnormalities were greater than previously reported for patients with EVC. Our study reviews the reported literature and adds 32 additional cases from the PCCC database. Review of the cardiac phenotype in patients with EVC syndrome reveals a characteristic pattern of atrioventricular canal defects with systemic and pulmonary venous abnormalities. The frequent association of these abnormalities is strongly reminiscent of the cardiac phenotype found in patients with heterotaxy syndromes. Emerging molecular and developmental studies suggest that EVC and EVC2 proteins may be important for cilia function, which is implicated in the pathogenesis of heterotaxy syndromes. It is speculated that coordinate function between the EVC proteins is required for a cilia-dependent cardiac morphogenesis. Springer Science+Business Media, LLC, 2011 Ellis-van Creveld syndrome nationallicence Congenital heart defects nationallicence Genotype-phenotype correlation nationallicence EVC : Ellis-van Creveld nationallicence CHD : Congenital heart disease nationallicence PCCC : Pediatric Cardiac Care Consortium nationallicence AVCD : Atrioventricular canal defect nationallicence CA : Common atrium nationallicence LSVC : Left superior vena cava nationallicence Hills Christine Department of Pediatric Cardiology, University of Minnesota, MMC 94 Delaware St. SE, 55455, Minneapolis, MN, USA aut Kochilas Lazaros Department of Pediatric Cardiology, University of Minnesota, MMC 94 Delaware St. SE, 55455, Minneapolis, MN, USA aut Schimmenti Lisa Department of Pediatric Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA aut Moller James Department of Pediatric Cardiology, University of Minnesota, MMC 94 Delaware St. SE, 55455, Minneapolis, MN, USA aut Pediatric Cardiology Springer-Verlag 32/7(2011-10-01), 977-982 0172-0643 32:7<977 2011 32 246 https://doi.org/10.1007/s00246-011-0006-9 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00246-011-0006-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hills Christine Department of Pediatric Cardiology, University of Minnesota, MMC 94 Delaware St. SE, 55455, Minneapolis, MN, USA aut NATIONALLICENCE 700 1- Kochilas Lazaros Department of Pediatric Cardiology, University of Minnesota, MMC 94 Delaware St. SE, 55455, Minneapolis, MN, USA aut NATIONALLICENCE 700 1- Schimmenti Lisa Department of Pediatric Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA aut NATIONALLICENCE 700 1- Moller James Department of Pediatric Cardiology, University of Minnesota, MMC 94 Delaware St. SE, 55455, Minneapolis, MN, USA aut NATIONALLICENCE 773 0- Pediatric Cardiology Springer-Verlag 32/7(2011-10-01), 977-982 0172-0643 32:7<977 2011 32 246 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer