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Holt-Oram syndrome revisited. Two patients in the same family
J D Frota Filho1, W Pereira, T L Leiria
1Hospital São Francisco da Santa Casa de Porto Alegre, Porto Alegre, RS, Brazil.
Insights
Holt-Oram syndrome, a genetic disorder affecting the heart and limbs, presents with varied symptoms. This study highlights variability in musculoskeletal issues and cardiac defects, noting a novel association with eosinophilia in two family members.
Area of Science:
- Genetics
- Cardiology
- Orthopedics
Background:
- Holt-Oram syndrome (HOS) is a rare genetic disorder.
- Characterized by congenital heart defects and upper limb abnormalities.
- Previously documented findings include septal defects and limb deformities.
Abstract:
Holt-Oram syndrome was first described in 1960 as an association of familial heart disease and musculoskeletal abnormalities. The most important findings include atrial septal defects, atrioventricular conduction abnormalities, vascular hypoplasia, and upper limb musculoskeletal deformities. We report two patients with this syndrome in the same family and discuss the variability of the musculoskeletal abnormalities and their association with the cardiac morphologic defects. Both patients in this study had associated eosinophilia, which has not been reported in the literature.