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Diagnostik und Therapie der kardialen Amyloidose

Positionspapier der Deutschen Gesellschaft für Kardiologie – Herz- und Kreislaufforschung (DGK)

Diagnostics and treatment of cardiac amyloidosis

Position paper of the German Cardiac Society (DGK)

  • Positionspapiere
  • Published:
Der Kardiologe Aims and scope

Zusammenfassung

Systemische Amyloidoseformen, die das Herz betreffen, sind v. a. die Leichtketten(AL)- und die ATTR-Amyloidosen, bei der es zur Ablagerung von fehlgefaltetem Transthyretin kommt (entweder als Wildtyp [wtATTR]-Form oder mutiert [mATTR]). Neben speziellen kardialen Biomarkern stehen heutzutage moderne nichtinvasive Bildgebungsverfahren wie das Herz-MRT oder szintigraphische Verfahren zur Verfügung, die die konventionelle Echokardiographie ergänzen und neben der Diagnose einer kardialen Amyloidose auch noch eine exakte Erfassung des Ausprägungsgrades ermöglichen. Als invasives diagnostisches Verfahren spielt die Endomyokardbiopsie weiterhin eine zentrale Rolle für die histopathologische Verifizierung bzw. Subtypisierung der kardialen Amyloidose. Wesentliches Ziel des in diesem Positionspapier skizzierten Diagnosepfades ist es, das Vorliegen einer kardialen Amyloidose möglichst sicher und frühzeitig zu erfassen, das Ausmaß der kardialen Amyloidose genau zu charakterisieren, die zugrunde liegende Amyloidoseform sicher zu identifizieren und anschließend eine gezielte Behandlung zu ermöglichen.

Abstract

Systemic forms of amyloidosis that are associated with cardiac involvement are in particular light-chain (AL) and transthyretin (ATTR) amyloidosis, which is caused by deposition of incorrectly folded transthyretin, either as the wild-type (wtATTR) or mutated (mATTR) form. Apart from specific cardiac biomarkers, modern noninvasive imaging procedures, such as cardiovascular magnetic resonance imaging (CMRI) and scintigraphic methods are available today. These imaging procedures not only complement conventional echocardiography but also enable accurate assessment of the extent of cardiac involvement in addition to the diagnosis of cardiac amyloidosis. In addition, invasive endomyocardial biopsy still plays a major role in histopathological confirmation of the underlying diagnosis and subsequent subtyping of cardiac amyloidosis. The major goal of the diagnostic algorithm illustrated in the present position paper is a definitive and timely diagnosis of the presence of cardiac amyloidosis, to accurately assess the extent of cardiac involvement, to quickly and safely identify the underlying subtype of amyloidosis and to subsequently enable a targeted treatment.

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Authors and Affiliations

  1. Sektion für Herzbildgebung, Klinik für Kardiologie I, Universitätsklinikum Münster, Von-Esmarch-Str. 48, 48149, Münster, Deutschland

    A. Yilmaz

  2. Klinik für Kardiologie und Angiologie, Medizinische Hochschule Hannover, Hannover, Deutschland

    J. Bauersachs

  3. Klinik für Innere Medizin III (Kardiologie, Angiologie und Internistische Intensivmedizin), Universitätsklinikum des Saarlandes und Medizinische Fakultät, Universität des Saarlandes, Homburg, Deutschland

    I. Kindermann

  4. Institut für Pathologie und Neuropathologie, Universität Tübingen, Tübingen, Deutschland

    K. Klingel

  5. Medizinische Klinik m.S. Kardiologie und Angiologie, Charité Universitätsmedizin Berlin Campus Mitte, Berlin, Deutschland

    F. Knebel

  6. Klinik für Innere Medizin III, Universitätsklinikum Heidelberg, Heidelberg, Deutschland

    B. Meder &  F. aus dem Siepen

  7. Interdisziplinäres Amyloidosezentrum Nordbayern, Deutsches Zentrum für Herzinsuffizienz, Medizinische Klinik I, Universität Würzburg, Würzburg, Deutschland

    C. Morbach

  8. Institut für experimentelle und translationale kardiovaskuläre Bildgebung, Universitätsklinikum Frankfurt, Frankfurt, Deutschland

    E. Nagel

  9. Institut für Genetik von Herzerkrankungen (IfGH), Universitätsklinikum Münster, Münster, Deutschland

    E. Schulze-Bahr

  10. Klinik für Innere Medizin III, Schwerpunkt Kardiologie und Angiologie, Universitätsklinikum Schleswig-Holstein, Kiel, Deutschland

    N. Frey

  11. Kommission für Klinische Kardiovaskuläre Medizin, Deutsche Gesellschaft für Kardiologie, Düsseldorf, Deutschland

    N. Frey

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Interessenkonflikt

A. Yilmaz: Vortrags- und Beratungshonorare von Alnylam und Pfizer Pharma GmbH. J. Bauersachs: Vortrags- und Beratungshonorare von Pfizer Pharma GmbH. I. Kindermann: Vortragshonorare von Akcea Therapeutics und Pfizer Pharma GmbH. K. Klingel: Vortragshonorare von Akcea Therapeutics, Alnylam und Pfizer Pharma GmbH. F. Knebel: Vortrags- und Beratungshonorare von Akcea Therapeutics, Alnylam und Pfizer Pharma GmbH. B. Meder: Vortragshonorare von Akcea Therapeutics und Alnylam sowie Reisekostenunterstützung von Pfizer Pharma GmbH. C. Morbach: Co-PI in einer Therapiestudie von Novartis, Vortrags- und Beratungshonorare von Amgen, Akcea Therapeutics, Alnylam und EBR Systems, Reisekostenstipendium von Thermo Fisher, Orion Pharma und Alnylam. E. Nagel gibt an, dass kein Interessenkonflikt besteht. E. Schulze-Bahr gibt an, dass kein Interessenkonflikt besteht. F. aus dem Siepen: Vortragshonorare von Akcea Therapeutics und Alnylam sowie Reisekostenunterstützung von Pfizer Pharma GmbH. N. Frey gibt an, dass kein Interessenkonflikt besteht.

Für diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

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N. Frey hat an diesem Beitrag für die Kommission für Klinische Kardiovaskuläre Medizin der DGK mitgewirkt.

Aus Gründen der Lesbarkeit wird darauf verzichtet, geschlechterspezifische Formulierungen zu verwenden. Soweit personenbezogene Bezeichnungen nur in männlicher Form angeführt sind, beziehen sie sich auf alle Geschlechter.

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Yilmaz, A., Bauersachs, J., Kindermann, I. et al. Diagnostik und Therapie der kardialen Amyloidose. Kardiologe 13, 264–291 (2019). https://doi.org/10.1007/s12181-019-00344-5

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