Genetisch bedingte Aortenerkrankungen – Empfehlungen für Kardiologen in Praxis und Klinik

Zusammenfassung

Erweiterungen der Aorta sind häufig. Erst die Kenntnis zugrunde liegender Ursachen und Mechanismen ermöglicht eine adäquate Diagnose und Beratung der Betroffenen. Genetisch bedingte Aortenerkrankungen sind mit einem erhöhten Risiko für Aortenkomplikationen wie Dissektion und Ruptur assoziiert. Die zugrunde liegenden Ursachen können syndromal (z. B. Marfan-, Loeys-Dietz-, vaskuläres Ehlers-Danlos-Syndrom) und nicht syndromal (z. B. isolierte bikuspide Aortenklappe – BAV, Aortenisthmusstenose, komplexe angeborene Herzfehler, familiäres thorakales Aortenaneurysma – FTAA, Dissektionen – TAAD) bedingt sein. Familienanamnese, klinische Merkmale, Bildgebung und genetische Testung werden zur Diagnosestellung herangezogen. Entscheidend ist eine genaue prognostische Einschätzung hinsichtlich möglicher Aortenkomplikationen. Das Management umfasst eine Modifikation der Lebensweise (z. B. bez. körperlicher Belastung bei Sport und Beruf), eine medikamentöse Prophylaxe einer progressiven Aortenerweiterung (Reduzierung der Wandspannung), eine elektive Aortenersatz-OP sowie regelmäßige Nachsorgeuntersuchungen. Aufgrund der Komplexität der Aortopathien ist eine multidisziplinäre Betreuung für eine optimale Patientenversorgung notwendig. Zudem sollte ein Familienscreening von Angehörigen ersten Grades erfolgen, um gefährdete Familienmitglieder identifizieren zu können.

Abstract

Dilatation of the aorta is a condition. Knowledge of the underlying causes and mechanisms allows adequate diagnosis and guidance of patients. Genetically determined aortic diseases are associated with increased risk for aortic complication (dissection/rupture). The underlying conditions include syndromic (e.g. Marfan-, Loeys-Dietz-, vascular Ehlers-Danlos-Syndrome) and non-syndromic conditions (e.g. bicuspid aortic valve – BAV, aortic coarctation, complex congenital heart diseases, familial thoracic aortic aneurysm – FTAA, dissections – FTAAD). Family history, clinical investigation, imaging and genetic testing are used for diagnosis. A precise diagnosis and risk stratifying for aortic complications are crucial for the prognosis of these patients. The management includes modifications in lifestyle (e.g. physical stress in sport and work), a medical prophylaxis of aortic growth (reduction of wall stress), an elective aortic replacement and regular follow-up examinations. Due to the complexity of aortopathies, a multidisciplinary care is required. Additionally, a family screening of all first-degree family members is necessary to identify others at risk.

Schlüsselwörter

Aortenektasie - Aortenaneurysma - Aortendissektion - Bindegewebserkrankungen - Aortenersatz - angeborene Aortenerkrankungen

Key words

aortic aneurysm - aortic dilatation - aortic dissection - connective tissue disease - aortic replacement - genetic aortic syndromes

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