BACKGROUND: Also called as heart-hand syndrome, is an inherited disorder, first described in 1960 by Holt and Oram in a 4 generation family with ASD and thumb abnormalities
GENETICS: Autosomal dominant inheritance with complete penetrance. Due to mutations in TBX5 on long arm of chromosome 12, which is important in development of heart and hand
Clinical features:
Hand defects: Always present. Includes carpal bone fusion, absent radius, absent or triphalangeal thumb
GENETICS: Autosomal dominant inheritance with complete penetrance. Due to mutations in TBX5 on long arm of chromosome 12, which is important in development of heart and hand
Clinical features:
Hand defects: Always present. Includes carpal bone fusion, absent radius, absent or triphalangeal thumb
Cardiac defects: Present in 75% of patients. Includes ASD(mc), VSD, conduction defects, AF, anamolous venous return
PROGNOSIS: Depends on severity of cardiac lesions. In mild lesions near normal life expectancy.
This is an image from a Holt Oram syndrome patient showing hand abnormalities
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