Author + information
- Received September 26, 2019
- Accepted October 4, 2019
- Published online April 6, 2020.
- Michele Boldrini, MDa,b,
- Francesco Cappelli, MDc,
- Liza Chacko, MDa,
- Maria Alejandra Restrepo-Cordoba, MDd,e,
- Angela Lopez-Sainz, MD, PhDd,e,
- Alberto Giannoni, MD, PhDf,g,
- Alberto Aimo, MD, MRCPa,g,
- Andrea Baggiano, MDh,
- Ana Martinez-Naharro, MDa,
- Carol Whelan, MDa,
- Cristina Quarta, MD, PhDa,
- Claudio Passino, MDf,g,
- Vincenzo Castiglione, MDg,
- Vladyslav Chubuchnyi, MDf,
- Valentina Spini, MDf,
- Claudia Taddei, BScf,
- Giuseppe Vergaro, MD, PhDf,g,
- Aviva Petrie, BSc (Hons)i,
- Luis Ruiz-Guerrero, MDd,
- Vanessa Moñivas, MD, PhDj,
- Susana Mingo-Santos, MD, PhDj,
- Jesus G. Mirelis, MD, PhDd,e,
- Fernando Dominguez, MD, PhDd,e,
- Esther Gonzalez-Lopez, MD, PhDd,e,
- Stefano Perlini, MD, PhDb,
- Gianluca Pontone, MD, PhDh,
- Julian Gillmore, MD, PhDa,
- Philip N. Hawkins, PhD, FMedScia,
- Pablo Garcia-Pavia, MD, PhDd,e,j,
- Michele Emdin, MD, PhDf,g and
- Marianna Fontana, MD, PhDa,∗ ()
- aNational Amyloidosis Centre, University College London, Royal Free Campus, London, United Kingdom
- bEmergency Department, Internal Medicine Department, Amyloidosis Research and Treatment Center, Istituto di Ricerca a Carattere Clinico e Scientifico Policlinico San Matteo Foundation, Pavia, Italy
- cTuscan Regional Amyloid Centre, Careggi University Hospital, Florence, Italy
- dDepartment of Cardiology, Hospital Puerta de Hierro Majadahonda, Madrid, Spain
- eCentro de Investigación Biomédica en Red Enfermedades Cardiovaculares, Madrid, Spain
- fFondazione Toscana Gabriele Monasterio, Pisa, Italy
- gInstitute of Life Sciences, Scuola Superiore Sant’Anna, Pisa, Italy
- hCentro Cardiologico Monzino, IRCCS, Milan, Italy
- iEastman Dental Institute, University College London, Grays Inn Road, London, United Kingdom
- jUniversity Francisco de Vitoria, Pozuelo de Alarcón, Madrid, Spain
- ↵∗Address for correspondence:
Dr. Marianna Fontana, Cardiac MRI Unit, National Amyloidosis Centre, University College London, Royal Free Campus, Rowland Hill Street, London NW3 2PF, United Kingdom.
Objectives This study aimed to investigate the accuracy of a broad range of echocardiographic variables to develop multiparametric scores to diagnose CA in patients with proven light chain (AL) amyloidosis or those with increased heart wall thickness who had amyloid was suspected. We also aimed to further characterize the structural and functional changes associated with amyloid infiltration.
Background Cardiac amyloidosis (CA) is a serious but increasingly treatable cause of heart failure. Diagnosis is challenging and frequently unclear at echocardiography, which remains the most often used imaging tool.
Methods We studied 1,187 consecutive patients evaluated at 3 referral centers for CA and analyzed morphological, functional, and strain-derived echocardiogram parameters with the aim of developing a score-based diagnostic algorithm. Cardiac amyloid burden was quantified by using extracellular volume measurements at cardiac magnetic resonance.
Results A total of 332 patients were diagnosed with AL amyloidosis and 339 patients with transthyretin CA. Concentric remodeling and strain-derived parameters displayed the best diagnostic performance. A multivariable logistic regression model incorporating relative wall thickness, E wave/e′ wave ratio, longitudinal strain, and tricuspid annular plane systolic excursion had the greatest diagnostic performance in AL amyloidosis (area under the curve: 0.90; 95% confidence interval: 0.87 to 0.92), whereas the addition of septal apical–to–base ratio yielded the best diagnostic accuracy in the increased heart wall thickness group (area under the curve: 0.80; 95% confidence interval: 0.85 to 0.90).
Conclusions Specific functional and structural parameters characterize different burdens of CA deposition with different diagnostic performances and enable the definition of 2 scores that are sensitive and specific tools with which diagnose or exclude CA.
This work was partially supported by grants from the Instituto de Salud Carlos III (ISCIII) (PI18/0765, CB16/11/00403). Grants from ISCIII and the Spanish Ministry of Economy and Competitiveness are supported by the Plan Estatal de I+D+I 2013-2016–European Regional Development Fund “A way of making Europe.” Dr. Gillmore has served as an advisory board member for Alnylam, Akcea, and Eidos. Dr. Fontana’s salary is funded by the British Heart Foundation (FS/18/21/33447). All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.
- Received September 26, 2019.
- Accepted October 4, 2019.
This article requires a subscription or purchase to view the full text. If you are a subscriber or member, click Login or the Subscribe link (top menu above) to access this article.