Described in 1960, the Syndrome of Holt-Oram is the association of cardiac malformations of variable gravity with anomalies of the upper limbs. This pathology is in connection with a change of gene TBX5 located on the Chromosome 12. This change is transmitted on a mode Autosomique dominating. But 85% of the patients reached are carrying a change of novo.

Other names

• Syndrome Heart atrio-digital hand
• Dysplasie

Incidence

Description

• the most typical form of this syndrome is the association of an anomaly of the inch (absence of inch, inch presenting 3 phalanges instead of 2, impossibility of putting the inch in opposition with the other fingers) and of an anomaly of the standard heart inter-auricular communication
• But of other anomalies reaching the Avant-bras, the Main and the Doigt S of any type can be observed.
• the most frequent anomalies are inter-auricular communications of the type ostium secundum and inter-ventricular communications of the muscular type. The Isomérisme is often associated with the inter-auricular communication of type ostium secundum
• Of the Troubles of cardiac conduction are also present, a such sinusal bradycardia or a auriculo-ventricular Bloc.

Sources

• Deborah has McDermott, Craig T Bassoon, Holt-Oram Syndrome In: GeneReviews At GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1997-2006.

References