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Genetisch bedingte Aortenerkrankungen

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Part of the book series: Springer Reference Medizin ((SRM))

Zusammenfassung

Thorakale Aortenaneurysmen und Aortendissektionen entstehen in etwa 80 % durch arterielle Hypertonie und Atherosklerose, und in etwa 20 % durch genetische Erkrankungen wie das Marfan-Syndrom oder eine bikuspidal angelegte Aortenklappe. Genetische Ursachen von Aortenerkrankungen beschränken sich allerdings nicht auf diese 2 Entitäten. Durch aktuelle Forschung werden im Jahrestakt neue Gene und Syndrome entdeckt, die für die Entstehung thorakaler Aortenerkrankungen verantwortlich sind. Interessanterweise scheint bei vielen Patienten mit einer Manifestation einer Aortenerkrankung nach dem 35. Lebensjahr eine genetische Komponente häufiger zu sein als bislang angenommen. Wichtig ist, dass die Prognose und die Therapie der Aortenerkrankungen in Abhängigkeit ihrer genetischen Grunderkrankung unterschiedlich sind. Daher gewinnt die diagnostische Aufarbeitung dieses Hintergrundes zunehmend an therapeutischer Bedeutung. Ausgehend vom Marfan-Syndrom als Modellerkrankung präsentieren wir das Spektrum genetisch bedingter Aortenerkrankungen und erläutern Gemeinsamkeiten und Unterschiede des diagnostischen und therapeutischen Managements.

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Correspondence to Y. von Kodolitsch , H. Schüler , T. Kölbel , C. Detter , S. Debus or P. Bannas .

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von Kodolitsch, Y., Schüler, H., Kölbel, T., Detter, C., Debus, S., Bannas, P. (2015). Genetisch bedingte Aortenerkrankungen. In: Debus, E., Gross-Fengels, W. (eds) Operative und interventionelle Gefäßmedizin. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-45856-3_75-1

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