Cargando…

Ellis Van Creveld Syndrome: Cardiac Anomalies and Anesthetic Implications

Ellis–Van Creveld syndrome (EVC), also known as mesoectodermal dysplasia, is a rare autosomal recessive disorder with a tetrad of clinical features, comprising dwarfism, polydactyly, ectodermal dysplasia with sparse hair, hypoplastic nails and enamel, hypodontia and conical teeth and congenital hear...

Descripción completa

Detalles Bibliográficos
Autores principales: Guha, Amrita, Malhotra, Rohit, Saxena, Rachit, Keshri, Vikas K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10451126/
https://www.ncbi.nlm.nih.gov/pubmed/37470539
http://dx.doi.org/10.4103/aca.aca_166_22
_version_ 1785095359562776576
author Guha, Amrita
Malhotra, Rohit
Saxena, Rachit
Keshri, Vikas K.
author_facet Guha, Amrita
Malhotra, Rohit
Saxena, Rachit
Keshri, Vikas K.
author_sort Guha, Amrita
collection PubMed
description Ellis–Van Creveld syndrome (EVC), also known as mesoectodermal dysplasia, is a rare autosomal recessive disorder with a tetrad of clinical features, comprising dwarfism, polydactyly, ectodermal dysplasia with sparse hair, hypoplastic nails and enamel, hypodontia and conical teeth and congenital heart disease (CHD). We report an 18-year-old girl with short stature and polydactyly, who got admitted to our hospital with shortness of breath on exertion for the last 2 years. On echocardiography, a partial atrioventricular canal (AV canal) defect was diagnosed, which was repaired surgically. The patient had an uneventful perioperative period.
format Online
Article
Text
id pubmed-10451126
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Wolters Kluwer - Medknow
record_format MEDLINE/PubMed
spelling pubmed-104511262023-08-26 Ellis Van Creveld Syndrome: Cardiac Anomalies and Anesthetic Implications Guha, Amrita Malhotra, Rohit Saxena, Rachit Keshri, Vikas K. Ann Card Anaesth Case Report Ellis–Van Creveld syndrome (EVC), also known as mesoectodermal dysplasia, is a rare autosomal recessive disorder with a tetrad of clinical features, comprising dwarfism, polydactyly, ectodermal dysplasia with sparse hair, hypoplastic nails and enamel, hypodontia and conical teeth and congenital heart disease (CHD). We report an 18-year-old girl with short stature and polydactyly, who got admitted to our hospital with shortness of breath on exertion for the last 2 years. On echocardiography, a partial atrioventricular canal (AV canal) defect was diagnosed, which was repaired surgically. The patient had an uneventful perioperative period. Wolters Kluwer - Medknow 2023 2023-07-07 /pmc/articles/PMC10451126/ /pubmed/37470539 http://dx.doi.org/10.4103/aca.aca_166_22 Text en Copyright: © 2023 Annals of Cardiac Anaesthesia https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Guha, Amrita
Malhotra, Rohit
Saxena, Rachit
Keshri, Vikas K.
Ellis Van Creveld Syndrome: Cardiac Anomalies and Anesthetic Implications
title Ellis Van Creveld Syndrome: Cardiac Anomalies and Anesthetic Implications
title_full Ellis Van Creveld Syndrome: Cardiac Anomalies and Anesthetic Implications
title_fullStr Ellis Van Creveld Syndrome: Cardiac Anomalies and Anesthetic Implications
title_full_unstemmed Ellis Van Creveld Syndrome: Cardiac Anomalies and Anesthetic Implications
title_short Ellis Van Creveld Syndrome: Cardiac Anomalies and Anesthetic Implications
title_sort ellis van creveld syndrome: cardiac anomalies and anesthetic implications
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10451126/
https://www.ncbi.nlm.nih.gov/pubmed/37470539
http://dx.doi.org/10.4103/aca.aca_166_22
work_keys_str_mv AT guhaamrita ellisvancreveldsyndromecardiacanomaliesandanestheticimplications
AT malhotrarohit ellisvancreveldsyndromecardiacanomaliesandanestheticimplications
AT saxenarachit ellisvancreveldsyndromecardiacanomaliesandanestheticimplications
AT keshrivikask ellisvancreveldsyndromecardiacanomaliesandanestheticimplications