학술논문
Repair of double orifice mitral valve with an atrioventricular septal defect in a girl with Ellis–Van Creveld syndrome.
Document Type
Article
Source
Subject
*MITRAL valve
*ECTODERMAL dysplasia
*CONGENITAL heart disease
*MITRAL valve insufficiency
*SYNDROMES
*POLYDACTYLY
*
*
*
*
*
Language
ISSN
2050-0904
Abstract
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. [ABSTRACT FROM AUTHOR]