Repair of double orifice mitral valve with an atrioventricular septal defect in a girl with Ellis–Van Creveld syndrome

• Published in: Clinical case reports Vol. 10; no. 5; pp. e05888 - n/a
• Main Authors: Al‐Dairy, Alwaleed, Srour, Samir, Chaker, Alaa, Alzahraa Alsyed Hasan, Fatimah
• Format: Journal Article
• Language: English
• Published: England John Wiley & Sons, Inc 01.05.2022; John Wiley and Sons Inc; Wiley
• Subjects: Asymptomatic; Case Report; Case Reports; common atrium; Conflicts of interest; Consent; double orifice mitral valve; ellis–van creveld syndrome; Genetic counseling; Heart; Medical prognosis; partial atrioventricular septal defect; Patients; Pediatrics; Pulmonary arteries; Surgery; partial atrioventricular septal defect; double orifice mitral valve; ellis–van creveld syndrome; common atrium

Ellis–van Creveld syndrome is a rare autosomal recessive disorder caused by mutations in the EVC and EVC2 genes. The four principal manifestations are chondrodysplasia, polydactyly, ectodermal dysplasia, and congenital heart defects. We describe the case of a 7‐year‐old girl with Ellis–van Creveld S...