title: Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum.
abstract: Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available information on the clinical course of EvC syndrome in older patients.
authors.affiliation: Cardiovascular Surgery Service, Virgen de la Arrixaca University Hospital, Murcia, Spain.
authors.forename: Joaquín
authors.initials: J
authors.lastname: Pérez-Andreu
authors.affiliation: Cardiovascular Surgery Service, Virgen de la Arrixaca University Hospital, Murcia, Spain.
authors.forename: Victor Glenn
authors.initials: VG
authors.lastname: Ray
authors.affiliation: Cardiovascular Surgery Service, Virgen de la Arrixaca University Hospital, Murcia, Spain.
authors.forename: José María
authors.initials: JM
authors.lastname: Arribas
authors.affiliation: Cardiovascular Surgery Service, Virgen de la Arrixaca University Hospital, Murcia, Spain.
authors.forename: Sergio Juan
authors.initials: SJ
authors.lastname: Sánchez
mesh_terms: D000328:Adult; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D005808:Genes, Recessive; D006226:Hand Deformities / Q000150:complications; D006801:Humans; D008017:Life Expectancy; D008297:Male; D008944:Mitral Valve Insufficiency / Q000601:surgery; D011379:Prognosis; D011788:Quality of Life; D014071:Tooth Abnormalities / Q000150:complications
keywords: Ellis-van Creveld syndrome; adulthood; mitral regurgitation