Congenital Heart Disease in an Adult with the Ellis-van Creveld Syndrome

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Abstract
The first case of the Ellis-van Creveld syndrome initially recognized in an adult is reported and the literature to date discussed. Ectodermal dysplasia, polydactyly and chondrodysplasia as well as congenital heart disease were present in the case presented. Catheterization data indicated a bidirectional shunt at the ventricular level compatible with a ventricular septal defect with severe pulmonary hypertension. Congenital heart disease has been noted in 50% of the reported cases and as in this case septal defects appears to be the most common cardiac lesion. Mesoectodermal dysplasia is again proposed as a more meaningful name for this syndrome.