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Case Reports
. 2022 Dec:67:101508.
doi: 10.1016/j.ppedcard.2022.101508. Epub 2022 Mar 1.

First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome

Isabelle Piazza  1 , Paolo Ferrero  2
Affiliations
Case Reports

First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome

Isabelle Piazza et al. Prog Pediatr Cardiol. 2022 Dec.

Abstract

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.

Keywords: COVID-19; Congenital heart disease; Ellis-van Creveld; SARS CoV-2.

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Conflict of interest statement

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Figures

Fig. 1
Fig. 1
Chest X ray at admission.
Fig. 2
Fig. 2
ECG tracing at admission.
Fig. 3
Fig. 3
Diagram summarizing specific variable potentially modulating the risk in EVC syndrome.
See this image and copyright information in PMC

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