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HOLT ORAM SYNDROME

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

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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we have operated a patient of HOLT ORAM syndrome. she was about 40 yrs old and had symptoms of shortness of breath on moderate work. her echocardiography confirmed the ASD and she also had absent first metacarpals in both the hands. she was operated and discharged in satisfactory condition.

 Dr.Preity!Thanks for the nice clinical picture.

If I may add a few points:

Holt Oram syndrome

 Familial, autosomal dominant, can run in generations,

 Features:

1. Thumb is absent or rudimentary

or may be triphalangial,or thumb may lie in line with other fingers.

Thumb has a crooked appearance

2-This can be associated with hypoplastic forearm

 with restriction of supination pronation of forearm

 3. Hypoplastic radius can be there and this bony defect becomes

 more prominent when palm is turned up.

Osseous anomaly: has a big range: minor changes ( made out only in X-rays) to absent arm(abrachia)

 or absent arm with persistent under developed hands called Phokomalia.

The type of ASD occurring in Holt Oram syndrome is ostium secundum 

Thanx..

Thank you all! :o)

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