Diagnostik und Therapie der kardialen Amyloidose

Die kardiale Amyloidose war bisher mit einer sehr schlechten Prognose assoziiert. Dank der Fortschritte in der Diagnostik eröffnen sich neue Wege im Management dieser Erkrankung. Eine frühzeitige Diagnose und die Implementierung moderner Therapien in den Alltag der Patienten kann die Lebensqualität der Betroffenen steigern und die Mortalität senken. Der folgende Beitrag gibt einen Überblick über die aktuellen Diagnose- und Therapiestrategien.

Kernaussagen

• Die kardiale Amyloidose stellt eine toxisch-infiltrative Kardiomyopathie dar, bei der fehlgefaltete Proteine in Form unlöslicher Amyloidfibrillen den interstitiellen Myokardraum infiltrieren, strukturelle Schäden verursachen und die Herzfunktion progressiv beeinträchtigen.

• Eine kardiale Amyloidose ist bei Patienten > 65 Jahren mit linksventrikulärer Hypertrophie und begleitenden kardialen oder extrakardialen Red Flags differenzialdiagnostisch in Erwägung zu ziehen.

• Ein strukturiertes diagnostisches Vorgehen bei kardialer Amyloidose beginnt obligat mit dem Ausschluss einer monoklonalen Gammopathie als Hinweis auf eine potenzielle AL-Amyloidose mit kardialer Manifestation.

• Die Diagnose einer ATTR-Kardiomyopathie ist heute in vielen Fällen nichtinvasiv möglich – vorausgesetzt, es liegt keine monoklonale Gammopathie vor und es findet sich eine typische Myokardanreicherung in der Knochenszintigrafie (Perugini-Score ≥ 2).

• Der Nachweis einer monoklonalen Gammopathie oder ein Perugini-Score von 0–1 erfordert zwingend eine histologische Bestätigung mittels Gewebebiopsie, um die vorliegende Form der kardialen Amyloidose zu sichern und eine gezielte Therapie einzuleiten.

• Zur Behandlung der ATTR-Kardiomyopathie ergänzen krankheitsspezifische Therapien wie TTR-Stabilisatoren und -Silencer zunehmend die symptomatische Herzinsuffizienztherapie und haben bereits Eingang in die klinische Praxis gefunden.

Schlüsselwörter

Amyloidose - ATTR-Kardiomyopathie - Red Flags - Echokardiografie - Skelettstintigrafie - TTR-Stabilisatoren

Publikationsverlauf

Artikel online veröffentlicht:
11. September 2025

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