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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Bibliographic Details
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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Description
Summary: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.
ISSN:0971-9784
0974-5181
DOI:10.4103/aca.aca_166_22