(cardiomelic syndrome)

Group of heart malformations associated with upper limb abnormalities.

Several types have been identified:

• type 1 or Holt-Oram syndrome [MIM 142 900], see this term
• type II or Berk-Tabatznick syndrome: short stature, optic nerve atrophy, brachytelephalangism
• type III or Spanish type [MIM 140 450]: extremely rare; conduction disorders (sinus disease, branch block) and brachydactyly (middle phalanges)
• Slovenian type: very rare, risk of sudden death due to ventricular tachycardia, brachydactyly of the feet
• brachydactyly long tumb
• ductus arteriosus permeability and bicuspid aortic: metacarpal hypoplasia; quite similar to Char syndrome

Updated: November 2022