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Repair of double orifice mitral valve with an atrioventricular septal defect in a girl with Ellis–Van Creveld syndrome

Ellis–van Creveld syndrome is a rare autosomal recessive disorder caused by mutations in the EVC and EVC2 genes. The four principal manifestations are chondrodysplasia, polydactyly, ectodermal dysplasia, and congenital heart defects. We describe the case of a 7‐year‐old girl with Ellis–van Creveld S...

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Autores principales: Al‐Dairy, Alwaleed, Srour, Samir, Chaker, Alaa, Alzahraa Alsyed Hasan, Fatimah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9117707/
https://www.ncbi.nlm.nih.gov/pubmed/35600041
http://dx.doi.org/10.1002/ccr3.5888
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author Al‐Dairy, Alwaleed
Srour, Samir
Chaker, Alaa
Alzahraa Alsyed Hasan, Fatimah
author_facet Al‐Dairy, Alwaleed
Srour, Samir
Chaker, Alaa
Alzahraa Alsyed Hasan, Fatimah
author_sort Al‐Dairy, Alwaleed
collection PubMed
description Ellis–van Creveld syndrome is a rare autosomal recessive disorder caused by mutations in the EVC and EVC2 genes. The four principal manifestations are chondrodysplasia, polydactyly, ectodermal dysplasia, and congenital heart defects. We describe the case of a 7‐year‐old girl with Ellis–van Creveld Syndrome with the diagnosis of common atrium and partial atrioventricular septal defect. She underwent a successful surgical repair, and intraoperatively, a double orifice mitral valve was diagnosed as well. The correct diagnosis of this disorder in early life is essential in the overall prognosis of the syndrome. Clinical follow‐up at regular intervals is very important in these patients to institute proper managements and prevent further complications.
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spelling pubmed-91177072022-05-20 Repair of double orifice mitral valve with an atrioventricular septal defect in a girl with Ellis–Van Creveld syndrome Al‐Dairy, Alwaleed Srour, Samir Chaker, Alaa Alzahraa Alsyed Hasan, Fatimah Clin Case Rep Case Reports Ellis–van Creveld syndrome is a rare autosomal recessive disorder caused by mutations in the EVC and EVC2 genes. The four principal manifestations are chondrodysplasia, polydactyly, ectodermal dysplasia, and congenital heart defects. We describe the case of a 7‐year‐old girl with Ellis–van Creveld Syndrome with the diagnosis of common atrium and partial atrioventricular septal defect. She underwent a successful surgical repair, and intraoperatively, a double orifice mitral valve was diagnosed as well. The correct diagnosis of this disorder in early life is essential in the overall prognosis of the syndrome. Clinical follow‐up at regular intervals is very important in these patients to institute proper managements and prevent further complications. John Wiley and Sons Inc. 2022-05-18 /pmc/articles/PMC9117707/ /pubmed/35600041 http://dx.doi.org/10.1002/ccr3.5888 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Al‐Dairy, Alwaleed
Srour, Samir
Chaker, Alaa
Alzahraa Alsyed Hasan, Fatimah
Repair of double orifice mitral valve with an atrioventricular septal defect in a girl with Ellis–Van Creveld syndrome
title Repair of double orifice mitral valve with an atrioventricular septal defect in a girl with Ellis–Van Creveld syndrome
title_full Repair of double orifice mitral valve with an atrioventricular septal defect in a girl with Ellis–Van Creveld syndrome
title_fullStr Repair of double orifice mitral valve with an atrioventricular septal defect in a girl with Ellis–Van Creveld syndrome
title_full_unstemmed Repair of double orifice mitral valve with an atrioventricular septal defect in a girl with Ellis–Van Creveld syndrome
title_short Repair of double orifice mitral valve with an atrioventricular septal defect in a girl with Ellis–Van Creveld syndrome
title_sort repair of double orifice mitral valve with an atrioventricular septal defect in a girl with ellis–van creveld syndrome
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9117707/
https://www.ncbi.nlm.nih.gov/pubmed/35600041
http://dx.doi.org/10.1002/ccr3.5888
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