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First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome
Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder, the features of the syndrome are: chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation resulting in dwarfism, teeth and craniofacial abnormalities and heart defects (mostly endocardial...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier B.V.
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8885086/ https://www.ncbi.nlm.nih.gov/pubmed/35250252 http://dx.doi.org/10.1016/j.ppedcard.2022.101508 |
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author | Piazza, Isabelle Ferrero, Paolo |
author_facet | Piazza, Isabelle Ferrero, Paolo |
author_sort | Piazza, Isabelle |
collection | PubMed |
description | Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder, the features of the syndrome are: chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation resulting in dwarfism, teeth and craniofacial abnormalities and heart defects (mostly endocardial cushions and atrial septal defects). We describe the first case reported of COVID-19 infection in a 24-years-old girl, diagnosed with EVC syndrome. The patient suffered only from a mild illness, she remained stable with normal saturation without need of neither respiratory support nor specific therapy and she was rapidly discharged. This case appraises the pathophysiological interplay between different specific prognostic variable in a syndromic patient with congenital heart disease and COVID-19. In patients with congenital heart disease, comorbidities related to syndromic picture may affect the clinical course of COVID-19 infection regardless of the anatomic complexity. |
format | Online Article Text |
id | pubmed-8885086 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Elsevier B.V. |
record_format | MEDLINE/PubMed |
spelling | pubmed-88850862022-03-01 First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome Piazza, Isabelle Ferrero, Paolo Prog Pediatr Cardiol Article Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder, the features of the syndrome are: chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation resulting in dwarfism, teeth and craniofacial abnormalities and heart defects (mostly endocardial cushions and atrial septal defects). We describe the first case reported of COVID-19 infection in a 24-years-old girl, diagnosed with EVC syndrome. The patient suffered only from a mild illness, she remained stable with normal saturation without need of neither respiratory support nor specific therapy and she was rapidly discharged. This case appraises the pathophysiological interplay between different specific prognostic variable in a syndromic patient with congenital heart disease and COVID-19. In patients with congenital heart disease, comorbidities related to syndromic picture may affect the clinical course of COVID-19 infection regardless of the anatomic complexity. Elsevier B.V. 2022-12 2022-03-01 /pmc/articles/PMC8885086/ /pubmed/35250252 http://dx.doi.org/10.1016/j.ppedcard.2022.101508 Text en © 2022 Elsevier B.V. All rights reserved. Since January 2020 Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre - including this research content - immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active. |
spellingShingle | Article Piazza, Isabelle Ferrero, Paolo First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome |
title | First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome |
title_full | First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome |
title_fullStr | First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome |
title_full_unstemmed | First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome |
title_short | First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome |
title_sort | first case reported of covid-19 infection in an adult patient with ellis-van creveld syndrome |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8885086/ https://www.ncbi.nlm.nih.gov/pubmed/35250252 http://dx.doi.org/10.1016/j.ppedcard.2022.101508 |
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