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Arch Pediatr Adolesc Med. 2007;161(7):712.

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Denouement and Comment: Holt-Oram Syndrome

Holt-Oram syndrome, also known as heart-hand syndrome I or atriodigital dysplasia, is characterized by forelimb deformities and congenital heart defects (Online Mendelian Inheritance in Man #142900).¹ Holt-Oram syndrome is inherited in an autosomal dominant manner with high penetrance. Mutations in the TBX5 gene located on chromosome 12q24.1 that encodes a transcription factor have been implicated as the cause of this syndrome, and up to 37 mutations have been identified.² Increasing severity occurs in succeeding generations. The prevalence is 1 in 100 000 patients, with 85% of new cases attributed to new mutations. Up to 50% of sporadic cases and 25% of familial cases represent new mutations.²

This syndrome was first described by Holt and Oram in 1960, who had observed atrial septal defect in members of 4 generations of a family associated with "a congenital anomaly of the thumbs which lay in the same plane as the fingers, their terminal phalanges . . . [Full Text of this Article]

CLINICAL FEATURES

Upper Limb Involvement

Cardiac Defects

DIAGNOSIS

TREATMENT

AUTHOR INFORMATION


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