Holt-oram syndrome in adult presenting with heart failure: a rare presentation.

[holt-oram syndrome]

Holt-Oram syndrome is a rare inherited disorder involving the hands , arms , and the heart . The defects involve carpal bones of the wrist and the thumb and the associated cardiac anomalies like atrial or ventricular septal defects . Congenital cardiac and upper -limb malformations frequently occur together and are classified as heart -hand syndromes . The most common amongst the heart -hand disorders is the Holt-Oram syndrome , which is characterized by septal defects of the heart and preaxial radial ray abnormalities . Its incidence is one in 100 ,000 live births . Approximately three out of four patients have some cardiac abnormality with common associations being either an atrial septal defect or ventricular septal defect . Herein , we report a rare sporadic case of Holt-Oram syndrome with atrial septal defect with symptoms of heart failure in a forty-five -year -old lady who underwent emergency cardiac surgery for the symptoms .