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Molekulargenetische Grundlagen des Vorhofseptumdefekts

Molecular genetic principles of atrial septal defects

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Zeitschrift für Herz-,Thorax- und Gefäßchirurgie Aims and scope

Zusammenfassung

Angeborene Herzfehler (AHF) sind die häufigsten angeborenen Missbildungen beim Menschen. Ungeachtet der Fortschritte in Diagnostik und Behandlung von AHF blieben die molekularen Mechanismen ihrer Entstehung bislang weitestgehend unklar. Neue Technologien in der Generierung genetischer Tiermodelle ermöglichten in jüngster Vergangenheit detaillierte Einblicke in die molekulargenetischen Vorgänge während der Herzentwicklung. Parallel dazu führten humangenetische Studien zur Identifizierung genetischer Mutationen, welche zu einer familiären Häufung von AHF führen. Während zunächst insbesondere Transkriptionsfaktoren bei der Entstehung von AHF eine Rolle zu spielen schienen, zeigen neuere Untersuchungen, dass auch Mutationen in strukturellen Genen des Sarkomers an der Entstehung von AHF beteiligt sind. Genetisch bedingte AHF beim Menschen bieten die einzigartige Möglichkeit, die molekularen Entstehungsmechanismen dieser komplexen Missbildungen besser zu verstehen. Dieser Artikel soll einen Überblick über die jüngsten Erkenntnisse der molekulargenetischen Ursachen von AHF unter besonderer Berücksichtigung des Vorhofseptumdefekts vom Secundum-Typ geben.

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.

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Authors and Affiliations

  1. Klinik für Herz-, Thorax- und Gefäßchirurgie, Deutsches Herzzentrum Berlin, Augustenburger Platz 1, 13353, Berlin, Deutschland

    M.G. Posch & R. Hetzer

  2. Klinik für angeborene Herzfehler und Kinderkardiologie, Deutsches Herzzentrum Berlin und Klinik für Kinderheilkunde mit Schwerpunkt Kardiologie, Charité – Universitätsmedizin Berlin, Berlin, Deutschland

    F. Berger

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  1. M.G. Posch
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Correspondence to M.G. Posch.

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Posch, M., Berger, F. & Hetzer, R. Molekulargenetische Grundlagen des Vorhofseptumdefekts. Z Herz- Thorax- Gefäßchir 25, 292–296 (2011). https://doi.org/10.1007/s00398-011-0866-6

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  • DOI: https://doi.org/10.1007/s00398-011-0866-6

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