D-Transposition of the Great Arteries and Ebstein's Anomaly in a Case with Microduplication 22q11.2

Abstract

The Velo-cardio-facial syndrome has become one of the most researched and most common genetic syndromes, mainly characterized by cleft palate and conotruncal heart malformations. In contrast, microduplication of the 22q11.2 region is a quite recently described new genetic entity comprising variable anomalies and also conotruncal heart defects. So far only few reports on this microduplication have been published. To our knowledge the present case is the first description of a patient with genetically confirmed duplication of the 22q11.2 region with d-transposition of the great arteries (d-TGA) and Ebsteinrsquor;s anomaly.