Congenital heart malformations are present in 75% of individuals with Holt-Oram syndrome,
Most commonly Associated with –
- ostium secundum atrial septal defect (ASD)
- ventricular septal defect (VSD)
- Holt–Oram syndrome – both the osteium secundum and osteum primum types of ASD are associated with Holt–Oram syndrome
- Upper limb abnormalities in association with congenital heart lesions.
- Autosomal dominant
- Upper-limb malformations can involve
- carpal bones
- thenar bones
- radial bones.
- These abnormalities may be unilateral or bilateral and symmetric or asymmetric.
- Most cases are unilateral and affect the left side.
- The thumb may be completely absent, grossly underdeveloped, or triphalangeal.
- The radius may exhibit aplasia or hypoplasia and abnormal forearm pronation and supination.
