First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome. (December 2022)

• Record Type: Journal Article
• Authors: Piazza, Isabelle; Ferrero, Paolo
• Is Part Of: Progress in pediatric cardiology. Volume 67(2022)
• Publication Date: 2022-12
• Subjects: Ellis-van Creveld -- COVID-19 -- SARS CoV-2 -- Congenital heart disease; Pediatric cardiology -- Periodicals; Cardiovascular Diseases -- Periodicals; Infant; Child; Cardiologie pédiatrique -- Périodiques; 618.9212005
• DOI: 10.1016/j.ppedcard.2022.101508
• Languages: English
• ISSNs: 1058-9813

Abstract

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. Highlights: The outcome of SARS CoV-2 infection is shaped by the complex interaction of patient specific variables, rather than by the preexisting cardiac condition There are no evidences suggesting increase susceptibility to SARS CoV-2 or a worse prognosis of the infection in adults with CHD Scheletric chest abnormalities, reduced vital capacity and increased BMI in EVC syndrome are relevant comorbidities which might potentially affect in many different ways clinical course of COVID-19