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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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
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spelling doaj-67c215b0eb79442e972d08af37987f8c2020-11-24T22:52:55ZengWolters Kluwer Medknow PublicationsHeart Views1995-705X2016-01-01171272910.4103/1995-705X.182644Holt-Oram syndrome associated with aortic atresia: A rare associationSunil B RodagiSnehal S SuranaVijaykumar R PotdarSharanbasav S KirdiHolt-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.http://www.heartviews.org/article.asp?issn=1995-705X;year=2016;volume=17;issue=1;spage=27;epage=29;aulast=RodagiAortic atresiacongenital heart diseaseHolt-Oram syndromeradial ray deformities
collection DOAJ
language English
format Article
sources DOAJ
author Sunil B Rodagi
Snehal S Surana
Vijaykumar R Potdar
Sharanbasav S Kirdi
spellingShingle Sunil B Rodagi
Snehal S Surana
Vijaykumar R Potdar
Sharanbasav S Kirdi
Holt-Oram syndrome associated with aortic atresia: A rare association
Heart Views
Aortic atresia
congenital heart disease
Holt-Oram syndrome
radial ray deformities
author_facet Sunil B Rodagi
Snehal S Surana
Vijaykumar R Potdar
Sharanbasav S Kirdi
author_sort Sunil B Rodagi
title Holt-Oram syndrome associated with aortic atresia: A rare association
title_short Holt-Oram syndrome associated with aortic atresia: A rare association
title_full Holt-Oram syndrome associated with aortic atresia: A rare association
title_fullStr Holt-Oram syndrome associated with aortic atresia: A rare association
title_full_unstemmed Holt-Oram syndrome associated with aortic atresia: A rare association
title_sort holt-oram syndrome associated with aortic atresia: a rare association
publisher Wolters Kluwer Medknow Publications
series Heart Views
issn 1995-705X
publishDate 2016-01-01
description 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.
topic Aortic atresia
congenital heart disease
Holt-Oram syndrome
radial ray deformities
url http://www.heartviews.org/article.asp?issn=1995-705X;year=2016;volume=17;issue=1;spage=27;epage=29;aulast=Rodagi
work_keys_str_mv AT sunilbrodagi holtoramsyndromeassociatedwithaorticatresiaarareassociation
AT snehalssurana holtoramsyndromeassociatedwithaorticatresiaarareassociation
AT vijaykumarrpotdar holtoramsyndromeassociatedwithaorticatresiaarareassociation
AT sharanbasavskirdi holtoramsyndromeassociatedwithaorticatresiaarareassociation
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