Molekulargenetische Grundlagen des Vorhofseptumdefekts

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• 作者：Dr. M.G. Posch (1)
  F. Berger (2)
  R. Hetzer (1)
  
• 关键词：Angeborene Herzfehler ; Mutation ; Transkriptionsfaktoren ; Alpha ; myosin ; Congenital heart defects ; Mutation ; Transcription factors ; Alpha ; myosin
• 刊名：Zeitschrift f篓鹿r Herz-,Thorax- und Gef??chirurgie
• 出版年：2011
• 出版时间：October 2011
• 年：2011
• 卷：25
• 期：5
• 页码：292-296
• 全文大小：381KB
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• 作者单位：Dr. M.G. Posch (1)
  F. Berger (2)
  R. Hetzer (1)
  
  1. Klinik f眉r Herz-, Thorax- und Gef盲脽chirurgie, Deutsches Herzzentrum Berlin, Augustenburger Platz 1, 13353, Berlin, Deutschland
  2. Klinik f眉r angeborene Herzfehler und Kinderkardiologie, Deutsches Herzzentrum Berlin und Klinik f眉r Kinderheilkunde mit Schwerpunkt Kardiologie, Charit茅 鈥?Universit盲tsmedizin Berlin, Berlin, Deutschland
  

文摘

Congenital heart defects (CHD) are the most common congenital defects in humans. Despite advances in the diagnosis and treatment of CHD, the molecular mechanisms concerning their development are still not clearly understood. New technologies in the generation of genetic animal models have recently made it possible to obtain a detailed view into the molecular genetic processes during development of the heart. Parallel to this, human genetic studies have made it possible to identify genetic mutations that lead to familial clustering of CHD. Initially transcription factors appeared to play a role in the development of CHD; however, more recent studies have also shown that mutations in structural genes of the sarcomere participate in the development of CHD. Hereditary CHDs offer the possibility to understand the molecular developmental mechanisms of these complex defects. The aim of this article is to provide an overview of the most recent advances in the molecular genetic causes of CHD with special consideration of secundum atrial septal defects.