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.
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