Holt-Oram syndrome: a simple diagnosis that is often delayed

Abstract

Background: Holt-Oram syndrome is uncommon. It is characterized by heart disease and skeletal abnormalities of the hands and arms (upper limbs). This conditionis inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The most common problem is an atrial septal defect, and upper limb musculoskeletal deformities. These morphological characteristics should suggest a cardiac abnormality which is usually silent. Cases presentation: We report isolated cases with this syndrome. Tow patients with skeletal anomalies have been survived 11 and 29 years with their congenital cardiac defects without being diagnosed in despite of their obvious upper limbs deformities. In the two cases, the diagnosis of Holt-Oram syndrome was delayed and the cardiac defects have been revealed at the stage of surgery. We will discuss the variables of the musculoskeletal abnormalities and their association with the cardiac morphological defects. Conclusion: Holt-Oram syndrome is a rare inherited clinical disorder. Cardiac defect should be suspected in the presence of congenital upper limb abnormalities.