Synonyms
Hand-heart syndrome; HOS
Definition and Characteristics
Holt-Oram syndrome (HOS) is characterized by the combination of radial upper limb defects in combination with congenital heart defects and cardiac conduction defects. The limb defects may be uni- or bilateral, symmetric or asymmetric. They include triphalangeal thumbs, hypoplastic or aplastic thumbs, shortening and/or fusion of carpal bones and thenar bones, and at the minimum a missing carpal bone. The radius can be hypoplastic or aplastic, with concomitant involvement of the ulna. The humeri may be shortened. Sloping shoulders with limited movements of the shoulder joints are common. Heart defects (in 75% of patients) most commonly include ostium secundum atrial septal defect (ASD) and ventricular septal defect (VSD), especially those occurring in the muscular trabeculated septum, but can also be complex like tetralogy of Fallot. Cardiac conduction disease may present at birth as sinus bradycardia and first-degree...
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Kohlhase, J. (2009). Holt-Oram Syndrome. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_814
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DOI: https://doi.org/10.1007/978-3-540-29676-8_814
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-67136-7
Online ISBN: 978-3-540-29676-8
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