Differenzialdiagnose und Therapie der Aortendilatation und -dissektion mit genetischem Hintergrund

Fazit

Es existiert ein breites Spektrum von angeborenen und größtenteils syndromalen Bindegewebeerkrankungen mit dem Risiko vaskulärer Komplikationen. Die aortale Beteiligung bedingt eine erhöhte Mortalität der Betroffenen. Dabei ist das Marfan-Syndrom die häufigste genetisch bedingte Bindegewebeerkrankung mit aortalen Komplikationen. Die Diagnose erfolgt klinisch und genetisch. Diagnostik und Therapie sollten in spezialisierten Zentren stattfinden, da die Differenzialdiagnose zu anderen genetischen Aortensyndromen insbesondere wegen unterschiedlicher therapeutischer Implikationen und prognostischer Unterschiede wichtig ist.

Eine weitere häufige Erkrankung ist die bikuspide Aortenklappenerkrankung mit einem bis zu 10-fach erhöhten Risiko für Dissektionen im Bereich der Aorta ascendens.

Kurative Therapien für die genetischen Aortensyndrome existieren nicht. Das Fortschreiten der aortalen Dilatation ist medikamentös nicht zu verhindern; ein gewisser verzögernder Effekt ist beim Marfan-Syndrom für Betablocker und Losartan nachgewiesen.

Nur ein chirurgischer Gefäßersatz mit einer Rohrprothese kann das Auftreten von Rupturen oder Dissektion nachhaltig verhindern. Bei Beteiligung des Aortenbulbus stehen je nach Funktionalität der Aortenklappe rekonstruktive Verfahren nach David oder klappentragende Gefäßprothesen zur Verfügung. Die Indikation zur chirurgischen Intervention ist je nach Grunderkrankung bei unterschiedlichen Gefäßdiametern zu stellen. Die endovaskuläre Therapie ist bei Bindegewebeerkrankungen aufgrund der insgesamt weichen Gefäßwände nur sehr zurückhaltend einzusetzen. Dennoch ist sie eine vielversprechende Option bei den häufig multiplen Eingriffen am Gefäßsystem.

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