Introduction:
Ellis–van Creveld (EVC) syndrome is a rare skeletal and ectodermal
dysplasia, with a prevalence of about 1 in 20,000 births, and is common
among the Old Order Amish of Lancaster County, Pennsylvania (1). The
skeletal dysplasia presents at birth with short limbs, and affected
individuals have postaxial polydactyly of the hands and sometimes of the
feet, and dysplastic teeth and nails (1). This condition was first
described by Richard Ellis and Simon Van Creveld in 1940 (2). Congenital
heart defects (CHD) are encountered in about 50-60 % of the cases, and
include common atrium, atrioventricular septal defect (AVSD) with
anomalies of the mitral and tricuspid valves, patent ductus arteriosus,
ventricular septal defect, atrial septal defect, and hypoplastic left
heart syndrome (3). Moreover, systemic and/or pulmonary venous
abnormalities are common as well (4). Double orifice mitral valve (DOMV)
is a rare congenital anomaly of the subvalvar mitral valve apparatus in
which there is an accessory bridge of fibrous tissue that partially or
completely divides the mitral valve into two orifices which functionally
may result in regurgitation or stenosis of the mitral valve. It has been
reported that AVSD was the most common CHD associated with DOMV (5).
Herein, we introduce the case of a 7-year-old girl with EVC Syndrome who
underwent open heart surgery for repair of partial atrioventricular
septal defect (PAVSD) with DOMV and common atrium.