THIRD EDITION
Factsheet
Condition:
Holt-Oram syndrome
Inheritance:
Autosomal dominant
Genetic Etiology:
Mutation in TBX5 gene, encoding T-box transcription factor.
Frequency:
Approximately 1/100,000
Clinical features:
Holt-Oram syndrome includes malformations of the upper extremity (abnormal carpal bones, radial ray anomalies, phocomelia, radial anomalies, etc.) and congenital heart malformations (ASD, VSD), and abnormalities of cardiac conduction.
Management:
Surgical treatment of limb and cardiac malformations; monitoring and management of disturbances of cardiac rhythm.
Genetic counseling:
Autosomal dominant transmission with variable expression; genetic testing is available.