© 2004 by European Society of Cardiology
Copyright © 2004, European Society of Cardiology
Molecular basis of AV block and cardiac malformations
Federal Institute for Drugs and Medical Devices, Bundesinstitut fur Arzneimittel und Medizinprodukte, Kurt-Georg-Kiesinger Allee 3, 53175 Bonn, Germany
* Tel.: +49 228 207 3177. E-mail address: mittmann@bfarm.de (C. Mittmann).
Received 21 July 2004; accepted 21 July 2004
| The first 10% of the full text of this article appears below. |
See article by Kasahara and Benson [13](pages 40–51) in this issue.
Several genetic anomalies have been identified as a reason for the development of cardiac malformations. For example, syndromes caused by deletions of chromosome 2q11 [1] or trisomy 21 [2] are associated with tetralogy of Fallot (TOF). Mutations of different transcription factors essential for heart formation can cause cardiac anomalies. Atrial and ventricular septal defects (ASD, VSD) are inherited in association with limb deformity in the autosomal dominant Holt–Oram syndrome. This is a result of mutations in the gene encoding the T-box transcription factor TBX5 (for a review, see Ref.
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