• Mayo Clinic proceedings · Jan 2023

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

    • Mélanie Bézard, Mounira Kharoubi, Arnault Galat, Fabien Le Bras, Elsa Poullot, Valérie Molinier-Frenkel, Pascale Fanen, Benoit Funalot, Anissa Moktefi, Mukedaisi Abulizi, Jean-François Deux, François Lemonnier, Soulef Guendouz, Coraline Chalard, Amira Zaroui, Emmanuel Itti, Luc Hittinger, Emmanuel Teiger, Silvia Oghina, and Thibaud Damy.
    • 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. Electronic address: bezard.melanie@yahoo.com.
    • Mayo Clin. Proc. 2023 Jan 1; 98 (1): 485948-59.

    ObjectiveTo 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).MethodsThis retrospective cohort study included a total of 1222 patients with suspected amyloidosis who underwent BS and GT between June 2008 and May 2019.ResultsOf 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.ConclusionThe 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.Copyright © 2022 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

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