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Canepa et al. Vessel Plus 2022;6:30 Vessel Plus
DOI: 10.20517/2574-1209.2021.106

Review Open Access

Cardiac amyloidosis: a changing epidemiology with

open challenges

2
1,2
3
3
Marco Canepa , Pier Filippo Vianello , Aldostefano Porcari , Marco Merlo , Maurizio Scarpa 4
1
Cardiology Unit, Department of Internal Medicine, University of Genoa, Genova 16132, Italy.
2
Cardiology Unit, Ospedale Policlinico San Martino IRCCS, Genova 16132, Italy.
3
Centre for Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria
Giuliano-Isontina (ASUGI), University of Trieste, Trieste 34148, Italy.
4
Centro Coordinamento Regionale Malattie Rare, Azienda Sanitaria Universitaria del Friuli Centrale, Udine 33100, Italy.
Correspondence to: Assoc. Prof. Marco Canepa, Cardiology Unit, Department of Internal Medicine, University of Genova,
Ospedale Policlinico San Martino IRCCS, Viale Benedetto XV, 10, Genova 16132 GE, Italy.
E-mail: marco.canepa@unige.it
How to cite this article: Canepa M, Vianello PF, Porcari A, Merlo M, Scarpa M. Cardiac amyloidosis: a changing epidemiology
with open challenges. Vessel Plus 2022;6:30. https://dx.doi.org/10.20517/2574-1209.2021.106
Received: 22 Jul 2021 First Decision: 24 Aug 2021 Revised: 10 Sep 2021 Accepted: 19 Nov 2021 Published: 13 May 2022

Academic Editors: Ugolino Livi, Wilbert Aronow Copy Editor: Xi-Jun Chen Production Editor: Xi-Jun Chen

Abstract
Cardiac amyloidosis (CA) is increasingly diagnosed due to the advancements made in diagnostics and therapeutics
in the last decades, particularly in the field of transthyretin-related CA. Studies that have used bone scintigraphy for
screening at-risk conditions have shown that about one out of ten patients with heart failure with preserved
ejection fraction (HFpEF), aortic stenosis undergoing valve replacement, or hypertrophic cardiomyopathy (HCM)
diagnosed later in life might have an underlying or concomitant CA. At the same time, the epidemiology of these
conditions is also rapidly evolving. HFpEF has become the leading form of heart failure, and HFpEF patients are
increasingly cared for in non-cardiology settings due to their older age and substantial burden of comorbidities.
Aortic stenosis is increasingly treated percutaneously at earlier stages of the disease, determining a significant gain
in survival. Hypertrophic cardiomyopathy is nowadays mostly diagnosed in middle-aged adults with near-normal
life expectancy, with a greater chance of misdiagnosing CA as HCM or of an overlap between the two conditions. In
all these contexts, the therapeutic and prognostic implications of diagnosing CA will have to be further
investigated. Meanwhile, the diagnostic workup of patients with suspected CA should always be completed with
the systematic exclusion of a plasma cell dyscrasia, the acquisition of tomographic imaging at bone scintigraphy,
and the completion of genetic testing for transthyretin-related forms.

© The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0
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