22q11 Deletion syndrome: A review of some developmental biology aspects of the cardiovascular system

Angelo Restivo, Anna Sarkozy, Maria Cristina Digilio, Bruno Dallapiccola, Bruno Marino

Research output: Contribution to journalArticle


The morphology and molecular genetics of the 22q11 deletion syndrome cardiovascular anomalies are reviewed. Special emphasis is given to TBX1, recently identified and considered to be the potential key gene for this clinical syndrome. The TBX1 downstream molecular pathways modulating the normal development of the pharyngeal apparatus are also discussed, and emphasis is given to the possible, equally fundamental role of downstream molecular pathway disruption in causing the clinical 22q11 deletion phenotype features.

Original languageEnglish
Pages (from-to)77-85
Number of pages9
JournalJournal of Cardiovascular Medicine
Issue number2
Publication statusPublished - Feb 2006



  • 22q11.2 deletion
  • Conotruncus
  • Neural crest
  • Secondary heart field
  • TBX1

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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