Holt-Oram syndrome associated with aortic atresia: A rare association

Abstract

Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder that causes abnormalities of the upper limbs and heart. It is seen in 1:1, 00, 000 live births. It is linked to a single-gene TBX5 “protein-producing” mutation with gene map locus 12q24. Most commonly it is characterized by the cardiac septation defects and pre-axial radial ray abnormalities. We are reporting a case of HOS with aortic atresia which is a rare association.

Keywords

• Aortic atresia
• congenital heart disease
• Holt-Oram syndrome
• radial ray deformities