Holt-Oram-Syndrom

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

Pathology

Genetics 

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.

Radiographic features

Antenatal ultrasound

The diagnosis can be suspected amongst the differential if upper limb abnormalities are noted along with heart defects on fetal ultrasound. The limb defects can be asymmetrical.

History and etymology

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

Differential diagnosis

General considerations include

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