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1. Patient-reported outcome measures for transthyretin cardiac amyloidosis: the ITALY study

Author

Aimo, Alberto, primary, Teresi, Lucio, additional, Castiglione, Vincenzo, additional, Picerni, Anna Lisa, additional, Niccolai, Martina, additional, Severino, Silvia, additional, Agazio, Assunta, additional, Carnevale Baraglia, Anna, additional, Obici, Laura, additional, Palladini, Giovanni, additional, Ponti, Lucia, additional, Argirò, Alessia, additional, Cappelli, Francesco, additional, Perfetto, Federico, additional, Serenelli, Matteo, additional, Trimarchi, Giancarlo, additional, Licordari, Roberto, additional, Di Bella, Gianluca, additional, Chubuchna, Olena, additional, Quattrone, Filippo, additional, Nuti, Sabina, additional, De Rosis, Sabina, additional, Passino, Claudio, additional, Rapezzi, Claudio, additional, Merlini, Giampaolo, additional, Emdin, Michele, additional, and Vergaro, Giuseppe, additional

Published
2023
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2. Guidelines and new directions in the therapy and monitoring of ATTRv amyloidosis

Author

Ando, Yukio, primary, Adams, David, additional, Benson, Merrill D., additional, Berk, John L., additional, Planté-Bordeneuve, Violaine, additional, Coelho, Teresa, additional, Conceição, Isabel, additional, Ericzon, Bo-Göran, additional, Obici, Laura, additional, Rapezzi, Claudio, additional, Sekijima, Yoshiki, additional, Ueda, Mitsuharu, additional, Palladini, Giovanni, additional, and Merlini, Giampaolo, additional

Published
2022
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3. Characteristics of patients with autonomic dysfunction in the Transthyretin Amyloidosis Outcomes Survey (THAOS).

Author

Barroso, Fabio A., Coelho, Teresa, Dispenzieri, Angela, Conceição, Isabel, Waddington-Cruz, Marcia, Wixner, Jonas, Maurer, Mathew S., Rapezzi, Claudio, Planté-Bordeneuve, Violaine, Kristen, Arnt V., González-Duarte, Alejandra, Chapman, Doug, Stewart, Michelle, and Amass, Leslie

Subjects
DYSAUTONOMIA, AMYLOIDOSIS, CARDIAC amyloidosis, TRANSTHYRETIN, ASYMPTOMATIC patients
Abstract

Autonomic dysfunction is common in transthyretin amyloidosis (ATTR amyloidosis), but its frequency, characteristics, and quality-of-life (QoL) impact are not well understood. The Transthyretin Amyloidosis Outcomes Survey (THAOS) is an ongoing, global, longitudinal survey of patients with ATTR amyloidosis, including patients with inherited (ATTRv) and wild-type (ATTRwt) disease and asymptomatic patients with TTR mutations (ClinicalTrials.gov: NCT00628745). In a descriptive analysis, characteristics and Norfolk QoL-DN total (TQoL) scores at enrolment were compared in patients with vs without autonomic dysfunction (analysis cut-off: 1 August 2020). Autonomic dysfunction occurred in 1181/2922 (40.4%) symptomatic patients, and more commonly in ATTRv (1107/1181 [93.7%]) than ATTRwt (74/1181 [6.3%]) amyloidosis. Time (mean [SD]) from ATTR amyloidosis symptom onset to first autonomic dysfunction symptom was shorter in ATTRv (3.4 [5.7] years) than ATTRwt disease (9.7 [10.4]). In ATTRv disease, patients with vs without autonomic dysfunction had worse QoL (TQoL, 47.3 [33.2] vs 16.1 [18.1]); in ATTRwt disease, those with vs without autonomic dysfunction had similar QoL (23.0 [18.2] vs 19.9 [20.5]). Autonomic dysfunction was more common and presented earlier in symptomatic ATTRv than ATTRwt amyloidosis and adversely affected QoL in ATTRv disease. These THAOS findings may aid clinicians in diagnosing and treating patients with ATTR amyloidosis. Trial registration: ClinicalTrials.gov: NCT00628745 [ABSTRACT FROM AUTHOR]

Published
2022
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5. Arterial thrombo-embolic events in cardiac amyloidosis: a look beyond atrial fibrillation

Author

Cappelli, Francesco, primary, Tini, Giacomo, additional, Russo, Domitilla, additional, Emdin, Michele, additional, Del Franco, Annamaria, additional, Vergaro, Giuseppe, additional, Di Bella, Gianluca, additional, Mazzeo, Anna, additional, Canepa, Marco, additional, Volpe, Massimo, additional, Perfetto, Federico, additional, Autore, Camillo, additional, Di Mario, Carlo, additional, Rapezzi, Claudio, additional, and Musumeci, Maria Beatrice, additional

Published
2020
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6. ATTRv amyloidosis Italian Registry: clinical and epidemiological data

Author

Russo, Massimo, primary, Obici, Laura, additional, Bartolomei, Ilaria, additional, Cappelli, Francesco, additional, Luigetti, Marco, additional, Fenu, Silvia, additional, Cavallaro, Tiziana, additional, Chiappini, Maria Grazia, additional, Gemelli, Chiara, additional, Pradotto, Luca Guglielmo, additional, Manganelli, Fiore, additional, Leonardi, Luca, additional, My, Filomena, additional, Sampaolo, Simone, additional, Briani, Chiara, additional, Gentile, Luca, additional, Stancanelli, Claudia, additional, Di Buduo, Eleonora, additional, Pacciolla, Paolo, additional, Salvi, Fabrizio, additional, Casagrande, Silvia, additional, Bisogni, Giulia, additional, Calabrese, Daniela, additional, Vanoli, Fiammetta, additional, Di Iorio, Giuseppe, additional, Antonini, Giovanni, additional, Santoro, Lucio, additional, Mauro, Alessandro, additional, Grandis, Marina, additional, Di Girolamo, Marco, additional, Fabrizi, Gian Maria, additional, Pareyson, Davide, additional, Sabatelli, Mario, additional, Perfetto, Federico, additional, Rapezzi, Claudio, additional, Merlini, Giampaolo, additional, Mazzeo, Anna, additional, and Vita, Giuseppe, additional

Published
2020
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8. Arterial thrombo-embolic events in cardiac amyloidosis: a look beyond atrial fibrillation.

Author

Cappelli, Francesco, Tini, Giacomo, Russo, Domitilla, Emdin, Michele, Del Franco, Annamaria, Vergaro, Giuseppe, Di Bella, Gianluca, Mazzeo, Anna, Canepa, Marco, Volpe, Massimo, Perfetto, Federico, Autore, Camillo, Di Mario, Carlo, Rapezzi, Claudio, and Musumeci, Maria Beatrice

Abstract

Intracardiac thrombosis is reported to occur frequently in cardiac amyloidosis (CA). However, data regarding arterial thrombo-embolic events (AEs) in CA are limited. We aimed at assessing prevalence, clinical characteristics and predictors of AEs in a large multicentric CA cohort. Four-hundred-six consecutive CA patients (134 AL, 73 ATTRm and 199 ATTRwt) from 5 Italian referral centres were retrospectively evaluated and followed-up for a median time of 19 months. Thirty-one patients (7.6%) suffered from an AE, of whom 10 (32.2%) were in sinus rhythm and had no history of AF. There were no significant differences in terms of age, gender and type of CA between patients with or without AEs. Fourteen (7.6%) of 185 patients on anticoagulation had an AE despite therapy. Anticoagulation therapy did not appear to fully protect from the risk of events (HR 1.23, 95%CI 0.52–2.92, p =.64). The only predictor of AEs, in particular among CA patients in sinus rhythm, was a CHA2DS2-VASC score ≥ 3 (HR 2.84, 95%CI 1.02–7.92, p =.05 in overall population; HR 10.13, 95%CI 1.12–91.19, p =.04 in patients in sinus rhythm). In our large, multicentric, real-world cohort, prevalence and incidence rate of AEs was high. A consistent proportion of events occurred despite anticoagulation therapy or in patients in sinus rhythm. A higher CHA2DS2-VASc score might identify patients at risk of AEs also among those in sinus rhythm. [ABSTRACT FROM AUTHOR]

Published
2021
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9. Atrial fibrillation in amyloidotic cardiomyopathy: prevalence, incidence, risk factors and prognostic role

Author

Longhi, Simone, primary, Quarta, Candida Cristina, additional, Milandri, Agnese, additional, Lorenzini, Massimiliano, additional, Gagliardi, Christian, additional, Manuzzi, Lisa, additional, Bacchi-Reggiani, Maria Letizia, additional, Leone, Ornella, additional, Ferlini, Alessandra, additional, Russo, Antonio, additional, Gallelli, Ilaria, additional, and Rapezzi, Claudio, additional

Published
2015
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10. Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis

Author

Ihse, Elisabet, primary, Rapezzi, Claudio, additional, Merlini, Giampaolo, additional, Benson, Merrill D., additional, Ando, Yukio, additional, Suhr, Ole B., additional, Ikeda, Shu-ichi, additional, Lavatelli, Francesca, additional, Obici, Laura, additional, Quarta, Candida C., additional, Leone, Ornella, additional, Jono, Hirofumi, additional, Ueda, Mitsuharu, additional, Lorenzini, Massimiliano, additional, Liepnieks, Juris, additional, Ohshima, Toshinori, additional, Tasaki, Masayoshi, additional, Yamashita, Taro, additional, and Westermark, Per, additional

Published
2013
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15. Gender-related risk of myocardial involvement in systemic amyloidosis

Author

Rapezzi, Claudio, primary, Riva, Letizia, additional, Quarta, Cristina C., additional, Perugini, Enrica, additional, Salvi, Fabrizio, additional, Longhi, Simone, additional, Ciliberti, Paolo, additional, Pastorelli, Francesca, additional, Biagini, Elena, additional, Leone, Ornella, additional, Cooke, Robin M. T., additional, Bacchi-Reggiani, Letizia, additional, Ferlini, Alessandra, additional, Cavo, Michele, additional, Merlini, Giampaolo, additional, Perlini, Stefano, additional, Pasquali, Sonia, additional, and Branzi, Angelo, additional

Published
2008
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16. Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: Towards tailoring of therapeutic strategies?

Author

Rapezzi, Claudio, primary, Perugini, Enrica, additional, Salvi, Fabrizio, additional, Grigioni, Francesco, additional, Riva, Letizia, additional, Cooke, Robin M. T., additional, Ferlini, Alessandra, additional, Rimessi, Paola, additional, Bacchi-Reggiani, Letizia, additional, Ciliberti, Paolo, additional, Pastorelli, Francesca, additional, Leone, Ornella, additional, Bartolomei, Ilaria, additional, Pinna, Antonio D., additional, Arpesella, Giorgio, additional, and Branzi, Angelo, additional

Published
2006
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17. High 99mTc-DPD myocardial uptake in a patient with apolipoprotein AI-related amyloidotic cardiomyopathy.

Author

Quarta, Candida Cristina, Obici, Laura, Guidalotti, Pier Luigi, Pieroni, Maurizio, Longhi, Simone, Perlini, Stefano, Verga, Laura, Merlini, Giampaolo, and Rapezzi, Claudio

Subjects
AMYLOIDOSIS, CARDIOMYOPATHIES, APOLIPOPROTEINS, BIOPSY, TRANSTHYRETIN, RADIONUCLIDE imaging, DIAGNOSIS
Abstract

Amyloidotic cardiomyopathy is still a widely underdiagnosed condition that usually requires endomyocardial biopsy (EMB) for a definite diagnosis. 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid (99mTc-DPD) has proven highly sensitive for detecting amyloidotic cardiomyopathy due to transthyretin-related amyloid deposition. Herein we report the first description of the 99mTc-DPD scintigraphy profile in a patient with suspected amyloidotic cardiomyopathy and a final EMB- and genetically-proven diagnosis of familial apolipoprotein AI amyloidosis due to Leu174Ser variant. Abbreviations: AL: light-chain associated amyloidosis; ApoAI: apolipoprotein AI; ATTR: hereditary transthyretin-related amyloidosis; EMB: endomyocardial biopsy; HCM: hypertrophic cardiomyopathy; HR: heart retention; H/WB: heart/whole-body retention ratio; LV: left ventricular; SPECT: single-photon emission computed tomography; SSA: senile systemic amyloidosis; 99mTc-DPD: 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid; TDI: tissue Doppler imaging; TTR: transthyretin. [ABSTRACT FROM AUTHOR]

Published
2013
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