Atrial Septal Defect Associated with Skeletal Anomalies (Holt-Oram Syndrome)

A case of atrial septal defect, associated with a hypoplastic right thumb (Holt-Oram syndrome) and polydactyly of the right hand and both feet, is described. Involvement of the lower limbs in this syndrome has been reported only once before in the literature, and polydactyly has not been previously described as part of the Holt-Oram syndrome. The variability of expression of extracardiac anomalies associated with congenital heart disease, and the need for careful cardiac evaluation of patients showing such anomalies, are emphasized.