Zusammenfassung
Aortenerkrankungen wie Aneurysmen und Dissektionen der Aorta, lassen sich in syndromische und nicht syndromische Formen unterscheiden. Zu den syndromischen Formen werden das relativ häufig vorkommente Marfan-Syndrom, die seltenen Loeys-Dietz-, Cutis-laxa- und Arterial-Tortuosity-Syndrome, die kongenitale Arachnodaktylie, das Noonan-Syndrom, das Turner-Syndrom, das MASS-Syndrom sowie das Ehlers-Danlos-Syndrom, und eine heterogene Gruppe von Bindegewebserkrankungen, gezählt. Die bikuspidale Aortenklappe, fibromuskuläre Dysplasie, persistierender Ductus arteriosus apertus mit Aortenaneurysma und familiäres thorakales Aortenaneurysma/Dissektion werden zu den nicht- syndromischen Formen gezählt. Alle betroffenen Patienten sollten regelmäßig echokardiographisch oder tomographisch (mit CT oder MRT) observiert werden. Die Konsultation eines klinischen Genetikers wird empfohlen. Die Therapie besteht aus Betablockern und AT1-Rezeptorblockern. Eine prophylaktische chirurgische Korrektur bei expandierender Aorta wird bei nicht- syndromischen Aorten Erkrankungen jenseits eines Durchmessers von 5,5 cm empfohlen. Bei bestehender Schwangerschaft sollte eine Geburtsklinik für Risikoschwangerschaften involviert werden.
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Nienaber, C.A. (2015). Kongenitale und vererbte Erkrankungen der Aorta. In: Lehnert, H., et al. SpringerReference Innere Medizin. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-54676-1_192-1
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DOI: https://doi.org/10.1007/978-3-642-54676-1_192-1
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