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Real-Life Evaluation of an Algorithm for the Diagnosis of Cardiac Amyloidosis

  • Mélanie Bézard
    Correspondence
    Correspondence: Address to Mélanie Bézard, 51 Avenue Maréchal de Lattre de Tassigny, 94000 Créteil France.
    Affiliations
    Cardiology Department, Henri Mondor University Hospital, Créteil, France

    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    GRC Amyloid Research Institute, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    DHU A-TVB, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France
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  • Mounira Kharoubi
    Affiliations
    Cardiology Department, Henri Mondor University Hospital, Créteil, France

    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    GRC Amyloid Research Institute, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    DHU A-TVB, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France
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  • Arnault Galat
    Affiliations
    Cardiology Department, Henri Mondor University Hospital, Créteil, France

    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    GRC Amyloid Research Institute, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    DHU A-TVB, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France
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  • Fabien Le Bras
    Affiliations
    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    GRC Amyloid Research Institute, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    Lymphoid Malignancies, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France
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  • Elsa Poullot
    Affiliations
    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    Pathology Department, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France
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  • Valérie Molinier-Frenkel
    Affiliations
    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    Pathology Department, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    University Paris Est Créteil, Institut National de la Santé et de la Recherche Médicale (INSERM) U955, Institut Mondor de Recherche Biomédicale (IMRB), Créteil, France
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  • Pascale Fanen
    Affiliations
    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    Pathology Department, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    Genetics Department, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France
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  • Benoit Funalot
    Affiliations
    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    Genetics Department, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France
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  • Anissa Moktefi
    Affiliations
    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    Pathology Department, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France
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  • Mukedaisi Abulizi
    Affiliations
    Nuclear Medicine Department, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France
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  • Jean-François Deux
    Affiliations
    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    GRC Amyloid Research Institute, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    DHU A-TVB, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    Radiology Department, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France
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  • François Lemonnier
    Affiliations
    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    GRC Amyloid Research Institute, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    Lymphoid Malignancies, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    University Paris Est Créteil, Institut National de la Santé et de la Recherche Médicale (INSERM) U955, Institut Mondor de Recherche Biomédicale (IMRB), Créteil, France
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  • Soulef Guendouz
    Affiliations
    Cardiology Department, Henri Mondor University Hospital, Créteil, France

    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    GRC Amyloid Research Institute, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    DHU A-TVB, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France
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  • Coraline Chalard
    Affiliations
    Cardiology Department, Henri Mondor University Hospital, Créteil, France

    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    GRC Amyloid Research Institute, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    DHU A-TVB, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France
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  • Amira Zaroui
    Affiliations
    Cardiology Department, Henri Mondor University Hospital, Créteil, France

    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    GRC Amyloid Research Institute, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    DHU A-TVB, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France
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  • Emmanuel Itti
    Affiliations
    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    GRC Amyloid Research Institute, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    Nuclear Medicine Department, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    University Paris Est Créteil, Institut National de la Santé et de la Recherche Médicale (INSERM) U955, Institut Mondor de Recherche Biomédicale (IMRB), Créteil, France
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  • Luc Hittinger
    Affiliations
    Cardiology Department, Henri Mondor University Hospital, Créteil, France

    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    GRC Amyloid Research Institute, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    DHU A-TVB, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France
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  • Emmanuel Teiger
    Affiliations
    Cardiology Department, Henri Mondor University Hospital, Créteil, France

    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    GRC Amyloid Research Institute, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    DHU A-TVB, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France
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  • Silvia Oghina
    Affiliations
    Cardiology Department, Henri Mondor University Hospital, Créteil, France

    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    GRC Amyloid Research Institute, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France
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  • Thibaud Damy
    Affiliations
    Cardiology Department, Henri Mondor University Hospital, Créteil, France

    French National Reference Centre for Cardiac Amyloidosis, Cardiogen Network, Henri Mondor University Hospital, Créteil, France

    GRC Amyloid Research Institute, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    DHU A-TVB, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France

    Clinical Investigation Centre, Assistance Publique-Hôpitaux de Paris, Henri Mondor University Hospital, Créteil, France
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Published:December 02, 2022DOI:https://doi.org/10.1016/j.mayocp.2022.08.016

      Abstract

      Objective

      To evaluate the real-life use of a modified Gillmore algorithm with a "one-stop-shop” approach, bone scintigraphy (BS), a monoclonal gammopathy test (GT), a salivary gland biopsy (SGB), and genetic testing performed at the same time for the diagnosis of cardiac amyloidosis at the French National Reference Centre for Cardiac Amyloidosis (Henri Mondor Hospital, Créteil, France).

      Methods

      This retrospective cohort study included a total of 1222 patients with suspected amyloidosis who underwent BS and GT between June 2008 and May 2019.

      Results

      Of 1222 patients, 349 had no cardiac uptake on BS and negative GT (BS−/GT−), 276 were BS−/GT positive (GT+), 420 patients were BS+/GT−, and 177 were BS+/GT+. Our one-stop-shop check-up enabled us to diagnose 892 (72.9%) patients; 330 (27.0%) patients required additional examinations, such as mass spectrometry and/or a cardiac biopsy. This subset notably included 112 patients with amyloid light chain amyloidosis. More than 64% of the patients with transthyretin amyloidosis or another type of amyloidosis were diagnosed during the one-stop shop visit. Sensitivity and specificity of BS for transthyretin amyloidosis diagnosis was 99% and 96%, respectively. For amyloid light chain diagnosis, sensitivity and specificity were 100% and 76%, respectively, for GT and 54% and 100%, respectively, for SGB. Of 910 transthyretin genetic tests, 205 (17%) detected mutations.

      Conclusion

      The results of our real-life cohort study confirmed the ability of a one-stop-shop approach with a modified Gillmore algorithm to diagnose cardiac amyloidosis and the interest of simultaneous testing for earlier diagnosis. The SGB has diagnostic value because it is easy, quick, and less invasive than a cardiac biopsy.

      Graphical abstract

      Abbreviations and Acronyms:

      AL (amyloid light chain), ATTR (transthyretin amyloidosis), BS (bone scintigraphy), CA (cardiac amyloidosis), GT (gammopathy test), SGB (salivary gland biopsy), TTR (transthyretin)
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      Linked Article

      • Decreasing Door-to-Diagnosis Time in Cardiac Amyloidosis: A Simple “One-Stop Shop” Approach
        Mayo Clinic ProceedingsVol. 98Issue 1
        • Preview
          Cardiac amyloidosis (CA) remains a challenging disease to detect and to diagnose. Recent advancements in treatment necessitate more rapid diagnosis so that treatment can be initiated as early as possible. In this issue of Mayo Clinic Proceedings, Bézard et al1 report on the real-life evaluation of an algorithm for the diagnosis of CA. The authors propose a “one-stop shop” approach to the diagnosis of CA by performing 4 tests simultaneously at the first day of a visit: serum and urine screening for monoclonal protein (MCP), nuclear cardiac scintigraphy, salivary gland biopsy, and DNA TTR testing.
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