Evolving trends in epidemiology and natural history of cardiac amyloidosis: 30-year experience from a tertiary referral center for cardiomyopathies

Aldostefano Porcari; Valentina Allegro; Riccardo Saro; Guerino Giuseppe Varrà; Linda Pagura; Maddalena Rossi; Andrea Lalario; Francesca Longo; Renata Korcova; Matteo Dal Ferro; Andrea Perkan; Franca Dore; Rossana Bussani; Giovanni Maria De Sabbata; Francesco Zaja; Marco Merlo; Gianfranco Sinagra

doi:10.3389/fcvm.2022.1026440

Evolving trends in epidemiology and natural history of cardiac amyloidosis: 30-year experience from a tertiary referral center for cardiomyopathies

Front Cardiovasc Med. 2022 Nov 7:9:1026440. doi: 10.3389/fcvm.2022.1026440. eCollection 2022.

Authors

Aldostefano Porcari¹, Valentina Allegro¹, Riccardo Saro¹, Guerino Giuseppe Varrà¹, Linda Pagura¹, Maddalena Rossi¹, Andrea Lalario¹, Francesca Longo¹, Renata Korcova¹, Matteo Dal Ferro¹, Andrea Perkan¹, Franca Dore², Rossana Bussani³, Giovanni Maria De Sabbata⁴, Francesco Zaja^{4

5}, Marco Merlo¹, Gianfranco Sinagra¹

Affiliations

¹ Department of Cardiovascular, Center for Diagnosis and Treatment of Cardiomyopathies, Azienda Sanitaria Universitaria Giuliano-Isontina (ASUGI), European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERNGUARD-Heart, University of Trieste, Trieste, Italy.
² Department of Nuclear Medicine, Azienda Sanitaria Universitaria Giuliano-Isontina (ASUGI), University of Trieste, Trieste, Italy.
³ Cardiothoracic Department, Center for Diagnosis and Treatment of Cardiomyopathies, Institute of Pathological Anatomy and Histology, Azienda Sanitaria Universitaria Giuliano-Isontina, University of Trieste, Trieste, Italy.
⁴ Department of Hematology, Azienda Sanitaria Universitaria Giuliano-Isontina (ASUGI), Trieste, Italy.
⁵ Department of Medical Science, University of Trieste, Trieste, Italy.

Abstract

Objective: Natural history of cardiac amyloidosis (CA) is poorly understood. We aimed to examine the changing mortality of different types of CA over a 30-year period.

Patients and methods: Consecutive patients included in the "Trieste CA Registry" from January 1, 1990 through December 31, 2021 were divided into a historical cohort (diagnosed before 2016) and a contemporary cohort (diagnosed after 2016). Light chain (AL), transthyretin (ATTR) and other forms of CA were defined according to international recommendations. The primary and secondary outcome measures were all-cause mortality and cardiac death, respectively.

Results: We enrolled 182 patients: 47.3% AL-CA, 44.5% ATTR-CA, 8.2% other etiologies. The number of patients diagnosed with AL and ATTR-CA progressively increased over time, mostly ATTR-CA patients (from 21% before 2016 to 67% after 2016) diagnosed non-invasively. The more consistent increase in event-rate was observed in the long-term (after 50 months) in ATTR-CA compared to the early increase in mortality in AL-CA. In the contemporary cohort, during a median follow up of 16 [4-30] months, ATTR-CA was associated with improved overall and cardiac survival compared to AL-CA. At multivariable analysis, ATTR-CA (HR 0.42, p = 0.03), eGFR (HR 0.98, p = 0.033) and ACE-inhibitor therapy (HR 0.24, p < 0.001) predicted overall survival in the contemporary cohort.

Conclusion: Incidence and prevalence rates of ATTR-CA and, to a less extent, of AL-CA have been increasing over time, with significant improvements in 2-year survival of ATTR-CA patients from the contemporary cohort. Reaching an early diagnosis and starting disease-modifying treatments will improve long-term survival in CA.

Keywords: cardiac amyloidosis; diagnosis; epidemiology; non-invasive cardiac imaging; prognostic stratification.