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
• ISSN: 2050-0904; 2050-0904
• DOI: 10.1002/ccr3.5888

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 Syndrome with the diagnosis of common atrium and partial atrioventricular septal defect. She underwent a successful surgical repair, and intraoperatively, a double orifice mitral valve was diagnosed as well. The correct diagnosis of this disorder in early life is essential in the overall prognosis of the syndrome. Clinical follow‐up at regular intervals is very important in these patients to institute proper managements and prevent further complications. Congenital heart defects are common among Ellis–Van Creveld syndrome patients, and need to be managed to enhance the quality of life and improve prognosis. Partial atrioventricular septal defect is among the most common congenital heart defects in these patients, and double orifice mitral valve is encountered frequently.