Holt-Oram syndrome in an infant presenting with heart failure

Abstract

Holt-Oram syndrome is an autosomal dominant condition characterized by morphological abnormalities of upper limbs and congenital cardiac defects. We report a case of 6-week-old infant with morphological alterations of upper limbs (absent radius and hypoplastic ulna) since birth and multiple congenital cardiac defects (atrial septal defects and ventricular septal defects), who presented with congestive cardiac failure. This case report illustrates that neonates with anomalies of thumb or upper limbs should be evaluated for possible congenital heart defects.