Impact of the Noninvasive Diagnostic Algorithm on Clinical Presentation and Prognosis in Cardiac Amyloidosis

Giacomo Tini, MD; Ernesto Cristiano, MD; Mattia Zampieri, MD; Alberto Ponziani, MD; Aldostefano Porcari, MD; Margherita Zanoletti, MD; Carlotta Mazzoni, MD; Matteo Sclafani, MD; Giulia Saturi, MD; Andrea Lalario, MD; Marianna Eleonora Labate, MD; Camillo Autore, MD; Emanuele Barbato, MD; Federico Perfetto, MD; Elena Biagini, MD; Gianfranco Sinagra, MD; Marco Canepa, MD; Marco Merlo, MD; Simone Longhi, MD; Francesco Cappelli, MD; Beatrice Musumeci, MD

JACC: Advances (Oct 2024)

Impact of the Noninvasive Diagnostic Algorithm on Clinical Presentation and Prognosis in Cardiac Amyloidosis

Giacomo Tini, MD,
Ernesto Cristiano, MD,
Mattia Zampieri, MD,
Alberto Ponziani, MD,
Aldostefano Porcari, MD,
Margherita Zanoletti, MD,
Carlotta Mazzoni, MD,
Matteo Sclafani, MD,
Giulia Saturi, MD,
Andrea Lalario, MD,
Marianna Eleonora Labate, MD,
Camillo Autore, MD,
Emanuele Barbato, MD,
Federico Perfetto, MD,
Elena Biagini, MD,
Gianfranco Sinagra, MD,
Marco Canepa, MD,
Marco Merlo, MD,
Simone Longhi, MD,
Francesco Cappelli, MD,
Beatrice Musumeci, MD

Affiliations

Giacomo Tini, MD: Department of Clinical and Molecular Medicine, Sapienza University of Rome, Rome, Italy
Ernesto Cristiano, MD: Department of Electrophysiology, Humanitas Gavazzeni, Bergamo, Italy
Mattia Zampieri, MD: Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy; Tuscan Regional Amyloid Center, Careggi University Hospital, Florence, Italy
Alberto Ponziani, MD: Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero- Universitaria di Bologna, Bologna, Italy; Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy
Aldostefano Porcari, MD: European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart; Centre for Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano-Isontina (ASUGI), University of Trieste, Trieste, Italy; National Amyloidosis Centre, Division of Medicine, University College London, London, UK
Margherita Zanoletti, MD: Cardiovascular Unit, Department of Internal Medicine, University of Genova, Genova, Italy
Carlotta Mazzoni, MD: Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy; Tuscan Regional Amyloid Center, Careggi University Hospital, Florence, Italy
Matteo Sclafani, MD: Department of Clinical and Molecular Medicine, Sapienza University of Rome, Rome, Italy
Giulia Saturi, MD: Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero- Universitaria di Bologna, Bologna, Italy; Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy
Andrea Lalario, MD: European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart; Centre for Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano-Isontina (ASUGI), University of Trieste, Trieste, Italy
Marianna Eleonora Labate, MD: Cardiovascular Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy
Camillo Autore, MD: Department of Clinical and Molecular Medicine, Sapienza University of Rome, Rome, Italy
Emanuele Barbato, MD: Department of Clinical and Molecular Medicine, Sapienza University of Rome, Rome, Italy
Federico Perfetto, MD: Tuscan Regional Amyloid Center, Careggi University Hospital, Florence, Italy
Elena Biagini, MD: Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero- Universitaria di Bologna, Bologna, Italy; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart
Gianfranco Sinagra, MD: European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart; Centre for Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano-Isontina (ASUGI), University of Trieste, Trieste, Italy
Marco Canepa, MD: Cardiovascular Unit, Department of Internal Medicine, University of Genova, Genova, Italy; Cardiovascular Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy
Marco Merlo, MD: European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart; Centre for Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano-Isontina (ASUGI), University of Trieste, Trieste, Italy
Simone Longhi, MD: Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero- Universitaria di Bologna, Bologna, Italy; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart
Francesco Cappelli, MD: Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy; Tuscan Regional Amyloid Center, Careggi University Hospital, Florence, Italy
Beatrice Musumeci, MD: Department of Clinical and Molecular Medicine, Sapienza University of Rome, Rome, Italy; Address for correspondence: Dr Beatrice Musumeci, Department of Clinical and Molecular Medicine, Sapienza University of Rome, UOC Cardiologia, Via di Grottarossa, 1035-1039, 00189 Rome, Italy.

Journal volume & issue: Vol. 3, no. 10
p. 101232

Abstract

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Background: The introduction of a noninvasive diagnostic algorithm in 2016 led to increased awareness and recognition of cardiac amyloidosis (CA). Objectives: The purpose of this study was to analyze the impact of the introduction of the noninvasive diagnostic algorithm on diagnosis and prognosis in a multicenter Italian CA cohort. Methods: This was a retrospective analysis of 887 CA patients from 5 Italian Cardiomyopathies Referral Centers: 311 light-chain CA, 87 variant transthyretin (TTR)-related CA, 489 wild-type TTR-related CA. Clinical characteristics and outcomes (all-cause mortality and heart failure [HF] hospitalizations) were compared overall and for each CA subtype between patients diagnosed before versus after 2016. Outcomes were further compared by propensity score weighted Kaplan-Meier analysis and Cox regression analysis. Results: CA diagnoses increased after 2016, in particular for wild-type TTR-related CA. Patients diagnosed after versus before 2016 were older, had less frequently a history of HF prior to diagnosis, and NYHA functional class III-IV at diagnosis. Over a median follow-up of 18 months, 172 (86%) patients diagnosed before 2016 died or had an HF hospitalization, versus 300 (44%) diagnosed after 2016. Propensity score weighted Kaplan-Meier analysis showed worse outcomes (P < 0.001) for patients diagnosed before 2016. At Cox regression analysis, CA diagnosis after 2016 was an independent protective factor for the composite outcome (HR: 0.69; P = 0.001), with interaction by CA subtype (significant in TTR-related CA and null in light-chain). Conclusions: CA patients diagnosed after 2016 showed a less severe phenotype and a better prognosis. The impact of the noninvasive diagnostic algorithm on outcomes was particularly relevant in TTR-related CA.

Published in JACC: Advances

ISSN: 2772-963X (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the circulatory (Cardiovascular) system; Medicine: Internal medicine: Medical emergencies. Critical care. Intensive care. First aid
Website: https://www.sciencedirect.com/journal/jacc-advances

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