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...

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Published in:Annals of cardiac anaesthesia 2023-07, Vol.26 (3), p.346-348
Main Authors: Guha, Amrita, Malhotra, Rohit, Saxena, Rachit, Keshri, Vikas
Format: Article
Language:English
Subjects:
Case Report
Congenital heart disease
Diagnosis
Dysplasia
echocardiography
ellis–van creveld syndrome
Genetic disorders
Heart
Heart diseases
partial av canal defect
Teenage girls
Ultrasonic imaging
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Malhotra, Rohit
Saxena, Rachit
Keshri, Vikas
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.
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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.</description><identifier>ISSN: 0971-9784</identifier><identifier>EISSN: 0974-5181</identifier><identifier>DOI: 10.4103/aca.aca_166_22</identifier><identifier>PMID: 37470539</identifier><language>eng</language><publisher>Mumbai: Wolters Kluwer India Pvt. Ltd</publisher><subject>Case Report ; Congenital heart disease ; Diagnosis ; Dysplasia ; echocardiography ; ellis–van creveld syndrome ; Genetic disorders ; Heart ; Heart diseases ; partial av canal defect ; Teenage girls ; Ultrasonic imaging</subject><ispartof>Annals of cardiac anaesthesia, 2023-07, Vol.26 (3), p.346-348</ispartof><rights>COPYRIGHT 2023 Medknow Publications and Media Pvt. 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subjects Case Report
Congenital heart disease
Diagnosis
Dysplasia
echocardiography
ellis–van creveld syndrome
Genetic disorders
Heart
Heart diseases
partial av canal defect
Teenage girls
Ultrasonic imaging
title Ellis van creveld syndrome: Cardiac anomalies and anesthetic implications
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