Holt-Oram syndrome associated with aortic atresia: A rare association

Holt-Oram syndrome associated with aortic atresia: A rare association

Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder that causes abnormalities of the upper limbs and heart. It is seen in 1:1, 00, 000 live births. It is linked to a single-gene TBX5 “protein-producing” mutation with gene map locus 12q24. Most commonly it is characterized by the cardiac s...

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Bibliographic Details
Main Authors: Sunil B Rodagi, Snehal S Surana, Vijaykumar R Potdar, Sharanbasav S Kirdi
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2016-01-01
Series:Heart Views
Subjects:
Aortic atresia
congenital heart disease
Holt-Oram syndrome
radial ray deformities
Online Access:http://www.heartviews.org/article.asp?issn=1995-705X;year=2016;volume=17;issue=1;spage=27;epage=29;aulast=Rodagi
Description
Summary:Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder that causes abnormalities of the upper limbs and heart. It is seen in 1:1, 00, 000 live births. It is linked to a single-gene TBX5 “protein-producing” mutation with gene map locus 12q24. Most commonly it is characterized by the cardiac septation defects and pre-axial radial ray abnormalities. We are reporting a case of HOS with aortic atresia which is a rare association.
ISSN:1995-705X

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