Tissue characterization in cardiac amyloidosis: a joint consensus document by the gruppo di studio di cardiopatologia (SIAPEC) and the SIC/ANMCO Italian cardiac amyloidosis network (RIAC).

Giuseppe Vergaro, Carla Giordano, Angela Pucci, Yu Fu Ferrari Chen, Alberto Aimo, Vincenzo Castiglione, Giulia Orlando, Francesca Bosco, Francesco Greco, Aldostefano Porcari, Alberto Cipriani, Simone Longhi, Francesco Cappelli, Federico Perfetto, Marco Canepa, Andrea Di Lenarda, Fabrizio Oliva, Pasquale Perrone Filardi, Massimo Iacoviello, Giuseppe Limongelli, Francesco Musca, Marco Merlo, Furio Colivicchi, Ciro Indolfi, Andrea Ascione, Chiara Baldovini, Cristina Basso, Giulia D'Amati, Andrea Marzullo, Mattia Riefolo, Stefania Rizzo, Cecilia Salzillo, Cristina Chimenti, Gianfranco Sinagra, Michele Emdin, Monica De Gaspari

Journal: Journal of cardiovascular medicine (Hagerstown, Md.) 2026;27(2):98-108

PMID: 41703404

Full Text on Wolters Kluwer View on PubMed

Abstract

Cardiac amyloidosis (CA) is an infiltrative cardiomyopathy caused by the accumulation of protein fibrils with an abnormal 3D configuration in the myocardium. The introduction of targeted therapies for the two most common forms, light-chain amyloidosis (AL) and transthyretin amyloidosis (ATTR), has made prompt recognition and accurate typing of the amyloid protein indispensable. Although in some ATTR cases a diagnosis can be reached with noninvasive imaging methods, diagnostic confirmation by peripheral or endomyocardial biopsy remains fundamental for many patients with ATTR and for all those with AL or rarer CA variants. The available typing complementary techniques are immunohistochemistry, immunofluorescence, immune electron microscopy, and mass spectrometry, each with specific strengths and limitations. This review describes the current indications for tissue analysis and compares the options for amyloid typing, with the aim of providing guidance relevant to clinical practice.

Address: Health Science Interdisciplinary Center, Scuola Superiore Sant'Anna.; Cardiovascular Medicine and Cardiology Division, Fondazione Toscana Gabriele Monasterio, Pisa, Italy.; Department of Experimental Pathology, Sapienza University, Rome.; Histopathology Department, Pisa University Hospital, Pisa.; Health Science Interdisciplinary Center, Scuola Superiore Sant'Anna.; Cardiovascular Medicine and Cardiology Division, Fondazione Toscana Gabriele Monasterio, Pisa, Italy.; Center for the Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart.; Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua.; Cardiology Unit, University Hospital of Padua, Padua.; Cardiology Division, Cardio-Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria, Bologna.; Experimental and Clinical Department, University of Florence.; Centro Regionale Toscano per l'Amiloidosi, Ospedale Careggi, Florence.; Cardiology Division, Ospedale Policlinico San Martino IRCCS, Genova.; Internal Medicine Department, University of Genova, Genova.; S.C. Patologie Cardiovascolari, Dipartimento Specialistico Territoriale, Azienda Sanitaria Universitaria Giuliano Isontina, Trieste.; Fondazione per il Tuo cuore - Heart Care Foundation, Florence.; Cardiology Division 1 - Hemodynamics, Cardiothoracovascular Department,'A. De Gasperis', ASST Grande Ospedale Metropolitano Niguarda, Milan.; Associazione Nazionale Medici Cardiologi Ospedalieri - ANMCO, Florence.; Advanced Biomedical Sciences, University of Naples 'Federico II', Naples.; Medical and Surgical Sciences, University of Foggia, Foggia.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart.; Unit for Genetic and Rare Cardiovascular Diseases, Rare Diseases Coordination Center, Campania Region.; Translational Medical Sciences, University of Campania Luigi Vanvitelli, Ospedale Monaldi, Naples.; Cardiology Division 2, Cardiothoracovascular department,"A. De Gasperis", ASST Grande Ospedale Metropolitano Niguarda, Milan.; Clinical and Rehabilitative Cardiology Division, San Filippo Neri Hospital - ASL Rome 1, Rome.; Department of Pharmacy, Health and Nutrition Sciences, University of Calabria, Rende, Cosenza.; Department of Pathology, Cardiovascular and Cardiac Transplant Pathology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna.; Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua.; Department of Precision and Regenerative Medicine and Ionian Area, Pathology Unit, University of Bari "Aldo Moro", Bari.; Department of Radiology, Oncology and Pathology, Sapienza University, Rome, Italy.

DOI: 10.2459/JCM.0000000000001839

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https://doi.org/10.2459/JCM.0000000000001839

MeSH Terms: Humans, Cardiomyopathies, Myocardium, Amyloid Neuropathies, Familial, Biopsy, Immunoglobulin Light-chain Amyloidosis, Predictive Value of Tests, Consensus, Immunohistochemistry, Amyloidosis