Holt-Oram syndrome

Last revised by Ayla Al Kabbani on 4 Jan 2023

Holt-Oram syndrome (HOS) is an autosomal dominant syndrome that results in congenital heart defects and upper limb anomalies: 

A large proportion of affected individuals have mutations in the TBX5 gene. It is thought to carry an autosomal dominant inheritance with full penetration but variable expression. However between 50 and 80% of cases may be due to new mutations.

The diagnosis of Holt-Oram syndrome may be suspected amongst the differential if upper limb abnormalities are noted along with heart defects on fetal ultrasound. The limb defects can be asymmetrical.

Two British cardiologists, Mary Clayton Holt (1924-1993) 10 and Samuel Oram (1913-1991) 11, described the condition in 1960 9.

General considerations include

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