Keywords
Congenital heart disease
Musculoskeletal abnormalities
Categories
How to Cite
Abstract
Background: Holt-Oram syndrome is uncommon. It is characterized by heart disease and skeletal abnormalities of the hands and arms (upper limbs). This condition is 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 that is usually silent.
Case 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 despite their obvious upper limb 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 musculoskeletal abnormalities and their association with cardiac morphological defects.
Conclusion: Holt-Oram syndrome is a rare inherited clinical disorder. The cardiac defects should be suspected in the presence of congenital upper limb abnormalities.
References
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Copyright (c) 2015 Abderrahmane Bakkali et al.
