Heart-hand syndrome

Congenital heart malformations are present in 75% of individuals with Holt-Oram syndrome,

Most commonly Associated with –

1. ostium secundum atrial septal defect (ASD)
2. 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

1. carpal bones
2. thenar bones
3. 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.