Open AccessHolt-Oram syndrome associated with aortic atresia: A rare association
Author(s) -
Sunil Rodagi,
Snehal Surana,
Vijaykumar R Potdar,
Sharanbasav S Kirdi
Publication year - 2016
Publication title -
heart views
Language(s) - English
Resource type - Journals
eISSN - 0976-5123
pISSN - 1995-705X
DOI - 10.4103/1995-705x.182644
Subject(s) - medicine , atresia , cardiology , association (psychology) , epistemology , philosophy
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.