Molekulargenetische Grundlagen des Vorhofseptumdefekts View Full Text


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Article Info

DATE

2011-10-16

AUTHORS

M.G. Posch, F. Berger, R. Hetzer

ABSTRACT

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. More... »

PAGES

292

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00398-011-0866-6

DOI

http://dx.doi.org/10.1007/s00398-011-0866-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1032660638


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