Holt–Oram Syndrome: Hands are the Clue to the Diagnosis

Abstract

Holt–Oram syndrome or heart–hand syndrome consists of phenotypic and genotypic abnormalities. It is characterized by abnormalities of upper limbs and congenital cardiac defects. It is an autosomal dominant disorder due to a mutation in TBX5 gene located on chromosome 12, but sporadic cases have also been reported. We describe a 26-year-old female with a history of shortness of breath for 5 years. She had bilateral hand deformities, and on evaluation, found to have ostium secundum atrial septal defect which is common cardiac defect in Holt–Oram syndrome.