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1. ECG/echo indexes in the diagnostic approach to amyloid cardiomyopathy: A head-to-head comparison from the AC-TIVE study

Author: Pagura, L, Porcari, A, Cameli, M, Biagini, E, Canepa, M, Crotti, L, Imazio, M, Forleo, C, Pavasini, R, Limongelli, G, Perlini, S, Metra, M, Boriani, G, Emdin, M, Sinagra, G, Merlo, M, Longo, F, Rossi, M, Varrà, G, Saro, R, Dore, F, Girardi, F, Vergaro, G, Musumeci, B, Autore, C, Cappelli, F, Perfetto, F, Olivotto, I, Favale, S, Carella, M, Guaricci, A, Ciccone, M, Di Bella, G, Tomasoni, D, Rella, V, Branzi, G, Badano, L, Parati, G, Palmiero, G, Caiazza, M, Caponetti, A, Saturi, G, Labate, M, Andreis, A, Paneva, E, De Ferrari, G, Di Ienno, L, De Carli, G, Giacomin, E, Arzilli, C, Pagura L., Porcari A., Cameli M., Biagini E., Canepa M., Crotti L., Imazio M., Forleo C., Pavasini R., Limongelli G., Perlini S., Metra M., Boriani G., Emdin M., Sinagra G., Merlo M., Longo F., Rossi M., Varrà G. G., Saro R., Dore F., Girardi F., Vergaro G., Musumeci B., Autore C., Cappelli F., Perfetto F., Olivotto I., Favale S., Carella M. C., Guaricci A. I., Ciccone M. M., Di Bella G., Tomasoni D., Rella V., Branzi G., Badano L., Parati G., Palmiero G., Caiazza M., Caponetti A. G., Saturi G., Labate M. E., Andreis A., Paneva E., De Ferrari G. M., Di Ienno L., De Carli G., Giacomin E., Arzilli C., Pagura, L, Porcari, A, Cameli, M, Biagini, E, Canepa, M, Crotti, L, Imazio, M, Forleo, C, Pavasini, R, Limongelli, G, Perlini, S, Metra, M, Boriani, G, Emdin, M, Sinagra, G, Merlo, M, Longo, F, Rossi, M, Varrà, G, Saro, R, Dore, F, Girardi, F, Vergaro, G, Musumeci, B, Autore, C, Cappelli, F, Perfetto, F, Olivotto, I, Favale, S, Carella, M, Guaricci, A, Ciccone, M, Di Bella, G, Tomasoni, D, Rella, V, Branzi, G, Badano, L, Parati, G, Palmiero, G, Caiazza, M, Caponetti, A, Saturi, G, Labate, M, Andreis, A, Paneva, E, De Ferrari, G, Di Ienno, L, De Carli, G, Giacomin, E, Arzilli, C, Pagura L., Porcari A., Cameli M., Biagini E., Canepa M., Crotti L., Imazio M., Forleo C., Pavasini R., Limongelli G., Perlini S., Metra M., Boriani G., Emdin M., Sinagra G., Merlo M., Longo F., Rossi M., Varrà G. G., Saro R., Dore F., Girardi F., Vergaro G., Musumeci B., Autore C., Cappelli F., Perfetto F., Olivotto I., Favale S., Carella M. C., Guaricci A. I., Ciccone M. M., Di Bella G., Tomasoni D., Rella V., Branzi G., Badano L., Parati G., Palmiero G., Caiazza M., Caponetti A. G., Saturi G., Labate M. E., Andreis A., Paneva E., De Ferrari G. M., Di Ienno L., De Carli G., Giacomin E., and Arzilli C.
Abstract: Background and aims: The discordance between QRS voltages on electrocardiogram (ECG) and left ventricle (LV) wall thickness (LVWT) on echocardiogram (echo) is a recognized red flag (RF) of amyloid cardiomyopathy (AC) and can be measured by specific indexes. No head-to-head comparison of different ECG/echo indexes among subjects with echocardiographic suspicion of AC has yet been undertaken. The study aimed at evaluating the performance and the incremental diagnostic value of different ECG/echo indexes in this subset of patients. Methods: Electrocardiograms of subjects with LV hypertrophy, preserved ejection fraction and ≥ 1 echocardiographic RF of AC participating in the AC-TIVE study, an Italian prospective multicenter study, were independently analyzed by two cardiologists. Low QRS voltages and 8 different ECG/echo indexes were evaluated. Cohort specific cut-offs were computed. Results: Among 170 patients, 55 (32 %) were diagnosed with AC. Combination of low QRS voltages with interventricular septum ≥ 1,6 cm was the most specific (specificity 100 %, positive predictive value 100 %) ECG/echo index, while the ratio between the sum of all QRS voltages and LVWT <7,8 was the most sensitive and accurate (sensitivity 94 %, negative predictive value 97 %, accuracy 82 %). When the latter index was added to a model using easily-accessible clinical variables, the diagnostic accuracy for AC greatly increased (AUC from 0,84 to 0,95; p = 0,007). Conclusions: Among patients with non-dilated hypertrophic ventricles with normal ejection fraction and echocardiographic RF of AC, easily-measurable ECG/echo indexes, mainly when added to few clinical variables, can help the physician orient second level investigations. External validation of the results is warranted.
Published: 2024

2. Diagnostic pathways to wild-type transthyretin amyloid cardiomyopathy: a multicentre network study

Author: Tini, G, Milani, P, Zampieri, M, Caponetti, A, Fabris, F, Foli, A, Argiro, A, Mazzoni, C, Gagliardi, C, Longhi, S, Saturi, G, Vergaro, G, Aimo, A, Russo, D, Varra, G, Serenelli, M, Fabbri, G, De Michieli, L, Palmiero, G, Ciliberti, G, Carigi, S, Sessarego, E, Mandoli, G, Ricci Lucchi, G, Rella, V, Monti, E, Gardini, E, Bartolotti, M, Crotti, L, Merli, E, Mussinelli, R, Vianello, P, Cameli, M, Marzo, F, Guerra, F, Limongelli, G, Cipriani, A, Perlini, S, Obici, L, Perfetto, F, Autore, C, Porto, I, Rapezzi, C, Sinagra, G, Merlo, M, Musumeci, B, Emdin, M, Biagini, E, Cappelli, F, Palladini, G, Canepa, M, Tini G., Milani P., Zampieri M., Caponetti A. G., Fabris F., Foli A., Argiro A., Mazzoni C., Gagliardi C., Longhi S., Saturi G., Vergaro G., Aimo A., Russo D., Varra G. G., Serenelli M., Fabbri G., De Michieli L., Palmiero G., Ciliberti G., Carigi S., Sessarego E., Mandoli G. E., Ricci Lucchi G., Rella V., Monti E., Gardini E., Bartolotti M., Crotti L., Merli E., Mussinelli R., Vianello P. F., Cameli M., Marzo F., Guerra F., Limongelli G., Cipriani A., Perlini S., Obici L., Perfetto F., Autore C., Porto I., Rapezzi C., Sinagra G., Merlo M., Musumeci B., Emdin M., Biagini E., Cappelli F., Palladini G., Canepa M., Tini, G, Milani, P, Zampieri, M, Caponetti, A, Fabris, F, Foli, A, Argiro, A, Mazzoni, C, Gagliardi, C, Longhi, S, Saturi, G, Vergaro, G, Aimo, A, Russo, D, Varra, G, Serenelli, M, Fabbri, G, De Michieli, L, Palmiero, G, Ciliberti, G, Carigi, S, Sessarego, E, Mandoli, G, Ricci Lucchi, G, Rella, V, Monti, E, Gardini, E, Bartolotti, M, Crotti, L, Merli, E, Mussinelli, R, Vianello, P, Cameli, M, Marzo, F, Guerra, F, Limongelli, G, Cipriani, A, Perlini, S, Obici, L, Perfetto, F, Autore, C, Porto, I, Rapezzi, C, Sinagra, G, Merlo, M, Musumeci, B, Emdin, M, Biagini, E, Cappelli, F, Palladini, G, Canepa, M, Tini G., Milani P., Zampieri M., Caponetti A. G., Fabris F., Foli A., Argiro A., Mazzoni C., Gagliardi C., Longhi S., Saturi G., Vergaro G., Aimo A., Russo D., Varra G. G., Serenelli M., Fabbri G., De Michieli L., Palmiero G., Ciliberti G., Carigi S., Sessarego E., Mandoli G. E., Ricci Lucchi G., Rella V., Monti E., Gardini E., Bartolotti M., Crotti L., Merli E., Mussinelli R., Vianello P. F., Cameli M., Marzo F., Guerra F., Limongelli G., Cipriani A., Perlini S., Obici L., Perfetto F., Autore C., Porto I., Rapezzi C., Sinagra G., Merlo M., Musumeci B., Emdin M., Biagini E., Cappelli F., Palladini G., and Canepa M.
Abstract: Aim: Epidemiology of wild-type transthyretin cardiac amyloidosis (ATTRwt-CA) remains poorly defined. A better characterization of pathways leading to ATTRwt-CA diagnosis is of key importance, and potentially informative of disease course and prognosis. The aim of this study was to describe the characteristics of contemporary pathways leading to ATTRwt-CA diagnosis, and their potential association with survival. Methods and results: This was a retrospective study of patients diagnosed with ATTRwt-CA at 17 Italian referral centres for CA. Patients were categorized into different ‘pathways’ according to the medical reason that triggered the diagnosis of ATTRwt-CA (hypertrophic cardiomyopathy [HCM] pathway, heart failure [HF] pathway, incidental imaging or incidental clinical pathway). Prognosis was investigated with all-cause mortality as endpoint. Overall, 1281 ATTRwt-CA patients were included in the study. The diagnostic pathway leading to ATTRwt-CA diagnosis was HCM in 7% of patients, HF in 51%, incidental imaging in 23%, incidental clinical in 19%. Patients in the HF pathway, as compared to the others, were older and had a greater prevalence of New York Heart Association (NYHA) class III–IV and chronic kidney disease. Survival was significantly worse in the HF versus other pathways, but similar among the three others. In multivariate model, older age at diagnosis, NYHA class III–IV and some comorbidities but not the HF pathway were independently associated with worse survival. Conclusions: Half of contemporary ATTRwt-CA diagnoses occur in a HF setting. These patients had worse clinical profile and outcome than those diagnosed either due to suspected HCM or incidentally, although prognosis remained primarily related to age, NYHA functional class and comorbidities rather than the diagnostic pathway itself.
Published: 2023

3. Razionale e valore fondamentale della Rete Italiana integrata dell’Amiloidosi Cardiaca [Rationale and significance of the Italian Network for Cardiac Amyloidosis]

Author: Sinagra, G, Emdin, M, Merlo, M, Vergaro, G, Aimo, A, Biagini, E, Imazio, M, Porcari, A, Limongelli, G, Cipriani, A, Canepa, M, Musumeci, B, Cameli, M, Crotti, L, Di Bella, G, Di Lenarda, A, Cappelli, F, Chimenti, C, Obici, L, Iacoviello, M, Perlini, S, Pieroni, M, Metra, M, Oliva, F, Perrone Filardi, P, Colivicchi, F, Indolfi, C, Sinagra G., Emdin M., Merlo M., Vergaro G., Aimo A., Biagini E., Imazio M., Porcari A., Limongelli G., Cipriani A., Canepa M., Musumeci B., Cameli M., Crotti L., Di Bella G., Di Lenarda A., Cappelli F., Chimenti C., Obici L., Iacoviello M., Perlini S., Pieroni M., Metra M., Oliva F., Perrone Filardi P., Colivicchi F., Indolfi C., Sinagra, G, Emdin, M, Merlo, M, Vergaro, G, Aimo, A, Biagini, E, Imazio, M, Porcari, A, Limongelli, G, Cipriani, A, Canepa, M, Musumeci, B, Cameli, M, Crotti, L, Di Bella, G, Di Lenarda, A, Cappelli, F, Chimenti, C, Obici, L, Iacoviello, M, Perlini, S, Pieroni, M, Metra, M, Oliva, F, Perrone Filardi, P, Colivicchi, F, Indolfi, C, Sinagra G., Emdin M., Merlo M., Vergaro G., Aimo A., Biagini E., Imazio M., Porcari A., Limongelli G., Cipriani A., Canepa M., Musumeci B., Cameli M., Crotti L., Di Bella G., Di Lenarda A., Cappelli F., Chimenti C., Obici L., Iacoviello M., Perlini S., Pieroni M., Metra M., Oliva F., Perrone Filardi P., Colivicchi F., and Indolfi C.
Abstract: The perspective on amyloidosis has changed deeply over the last 10 years following major advances in diagnosis and treatment options, especially in cardiac amyloidosis. This intrinsically heterogeneous disease exposes to the risk of fragmentation of knowledge and requires the interaction among experts of different specialties and subspecialties. Suspicion of disease, timely recognition and confirmation of final diagnosis, prognostic stratification, clinical management and therapeutic strategies represent essential steps to be taken. Missing or delaying the diagnosis may have dramatic impact on patient outcome, as in the case of chemotherapy in unrecognized light-chain amyloidosis. Therefore, there is an urgent need for the foundation of an Italian Amyloidosis Network to deal with the challenges of this condition and orient clinical management at national and local levels. The present consensus document aims to provide the rationale and scopes of the Italian Amyloidosis Network, which has been conceived as an organizational framework for professionals managing patients with amyloidosis.
Published: 2023

4. Escolas sensíveis ao trauma: um modelo de intervenção e prevenção na primeira infância

Author: MUSUMECI, B., primary
Published: 2021
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5. Razionale e valore fondamentale della Rete Italiana integrata dell’Amiloidosi Cardiaca [Rationale and significance of the Italian Network for Cardiac Amyloidosis]

Author: Sinagra G., Emdin M., Merlo M., Vergaro G., Aimo A., Biagini E., Imazio M., Porcari A., Limongelli G., Cipriani A., Canepa M., Musumeci B., Cameli M., Crotti L., Di Bella G., Di Lenarda A., Cappelli F., Chimenti C., Obici L., Iacoviello M., Perlini S., Pieroni M., Metra M., Oliva F., Perrone Filardi P., Colivicchi F., Indolfi C., Sinagra, G, Emdin, M, Merlo, M, Vergaro, G, Aimo, A, Biagini, E, Imazio, M, Porcari, A, Limongelli, G, Cipriani, A, Canepa, M, Musumeci, B, Cameli, M, Crotti, L, Di Bella, G, Di Lenarda, A, Cappelli, F, Chimenti, C, Obici, L, Iacoviello, M, Perlini, S, Pieroni, M, Metra, M, Oliva, F, Perrone Filardi, P, Colivicchi, F, and Indolfi, C
Subjects: Treatment, Clinical management, Cardiac amyloidosi, Differential diagnosi, Perspective
Abstract: The perspective on amyloidosis has changed deeply over the last 10 years following major advances in diagnosis and treatment options, especially in cardiac amyloidosis. This intrinsically heterogeneous disease exposes to the risk of fragmentation of knowledge and requires the interaction among experts of different specialties and subspecialties. Suspicion of disease, timely recognition and confirmation of final diagnosis, prognostic stratification, clinical management and therapeutic strategies represent essential steps to be taken. Missing or delaying the diagnosis may have dramatic impact on patient outcome, as in the case of chemotherapy in unrecognized light-chain amyloidosis. Therefore, there is an urgent need for the foundation of an Italian Amyloidosis Network to deal with the challenges of this condition and orient clinical management at national and local levels. The present consensus document aims to provide the rationale and scopes of the Italian Amyloidosis Network, which has been conceived as an organizational framework for professionals managing patients with amyloidosis.
Published: 2023

6. Unmasking the prevalence of amyloid cardiomyopathy in the real world: results from Phase 2 of the AC-TIVE study, an Italian nationwide survey

Author: Merlo, M, Pagura, L, Porcari, A, Cameli, M, Vergaro, G, Musumeci, B, Biagini, E, Canepa, M, Crotti, L, Imazio, M, Forleo, C, Cappelli, F, Perfetto, F, Favale, S, Di Bella, G, Dore, F, Girardi, F, Tomasoni, D, Pavasini, R, Rella, V, Palmiero, G, Caiazza, M, Carella, M, Igoren Guaricci, A, Branzi, G, Caponetti, A, Saturi, G, La Malfa, G, Merlo, A, Andreis, A, Bruno, F, Longo, F, Rossi, M, Varra, G, Saro, R, Di Ienno, L, De Carli, G, Giacomin, E, Arzilli, C, Limongelli, G, Autore, C, Olivotto, I, Badano, L, Parati, G, Perlini, S, Metra, M, Emdin, M, Rapezzi, C, Sinagra, G, Merlo M., Pagura L., Porcari A., Cameli M., Vergaro G., Musumeci B., Biagini E., Canepa M., Crotti L., Imazio M., Forleo C., Cappelli F., Perfetto F., Favale S., Di Bella G., Dore F., Girardi F., Tomasoni D., Pavasini R., Rella V., Palmiero G., Caiazza M., Carella M. C., Igoren Guaricci A., Branzi G., Caponetti A. G., Saturi G., La Malfa G., Merlo A. C., Andreis A., Bruno F., Longo F., Rossi M., Varra G. G., Saro R., Di Ienno L., De Carli G., Giacomin E., Arzilli C., Limongelli G., Autore C., Olivotto I., Badano L., Parati G., Perlini S., Metra M., Emdin M., Rapezzi C., Sinagra G., Merlo, M, Pagura, L, Porcari, A, Cameli, M, Vergaro, G, Musumeci, B, Biagini, E, Canepa, M, Crotti, L, Imazio, M, Forleo, C, Cappelli, F, Perfetto, F, Favale, S, Di Bella, G, Dore, F, Girardi, F, Tomasoni, D, Pavasini, R, Rella, V, Palmiero, G, Caiazza, M, Carella, M, Igoren Guaricci, A, Branzi, G, Caponetti, A, Saturi, G, La Malfa, G, Merlo, A, Andreis, A, Bruno, F, Longo, F, Rossi, M, Varra, G, Saro, R, Di Ienno, L, De Carli, G, Giacomin, E, Arzilli, C, Limongelli, G, Autore, C, Olivotto, I, Badano, L, Parati, G, Perlini, S, Metra, M, Emdin, M, Rapezzi, C, Sinagra, G, Merlo M., Pagura L., Porcari A., Cameli M., Vergaro G., Musumeci B., Biagini E., Canepa M., Crotti L., Imazio M., Forleo C., Cappelli F., Perfetto F., Favale S., Di Bella G., Dore F., Girardi F., Tomasoni D., Pavasini R., Rella V., Palmiero G., Caiazza M., Carella M. C., Igoren Guaricci A., Branzi G., Caponetti A. G., Saturi G., La Malfa G., Merlo A. C., Andreis A., Bruno F., Longo F., Rossi M., Varra G. G., Saro R., Di Ienno L., De Carli G., Giacomin E., Arzilli C., Limongelli G., Autore C., Olivotto I., Badano L., Parati G., Perlini S., Metra M., Emdin M., Rapezzi C., and Sinagra G.
Abstract: Aim: To investigate the prevalence of amyloid cardiomyopathy (AC) and the diagnostic accuracy of echocardiographic red flags of AC among consecutive adult patients undergoing transthoracic echocardiogram for reason other than AC in 13 Italian institutions. Methods and results: This is an Italian prospective multicentre study, involving a clinical and instrumental work-up to assess AC prevalence among patients ≥55 years old with an echocardiogram suggestive of AC (i.e. at least one echocardiographic red flag of AC in hypertrophic, non-dilated left ventricles with preserved ejection fraction). The study was registered at ClinicalTrials.gov (NCT04738266). Overall, 381 patients with an echocardiogram suggestive of AC were identified among a cohort of 5315 screened subjects, and 217 patients completed the investigations. A final diagnosis of AC was made in 62 patients with an estimated prevalence of 29% (95% confidence interval 23%–35%). Transthyretin-related AC (ATTR-AC) was diagnosed in 51 and light chain-related AC (AL-AC) in 11 patients. Either apical sparing or a combination of ≥2 other echocardiographic red flags, excluding interatrial septum thickness, provided a diagnostic accuracy >70%. Conclusion: In a cohort of consecutive adults with echocardiographic findings suggestive of AC and preserved left ventricular ejection fraction, the prevalence of AC (either ATTR or AL) was 29%. Easily available echocardiographic red flags, when combined together, demonstrated good diagnostic accuracy.
Published: 2022

7. Cardiovascular risk and the COVID-19 pandemic: a retrospective observational study in a population of healthcare professionals

Author: Solfanelli, G., primary, Giaccio, D., additional, Tropea, A., additional, Bucicovschi, V., additional, Gallo, G., additional, Tocci, G., additional, Musumeci, B., additional, Marcellini, L., additional, Barbato, E., additional, Volpe, M., additional, and Battistoni, A., additional
Published: 2023
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8. Incidence and factors associated with de novo atrial fibrillation in patients with wild-type transthyretin cardiac amyloidosis

Author: Fumagalli, C, primary, Zampieri, M, additional, Argiro', A, additional, Musumeci, B, additional, Tini, G, additional, Di Bella, G, additional, Cipriani, A, additional, Porcari, A, additional, Canepa, M, additional, Merlo, M, additional, Sinagra, G, additional, Rapezzi, C, additional, Perfetto, F, additional, and Cappelli, F, additional
Published: 2022
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9. Incidence and risk factors for pacemaker implantation in light chain and transthyretin cardiac amyloidosis

Author: Porcari, A, primary, Rossi, M, additional, Cappelli, F, additional, Canepa, M, additional, Musumeci, B, additional, Cipriani, A, additional, Tini, G, additional, Varra', G G, additional, Argiro', A, additional, Sessarego, E, additional, Sinigiani, G, additional, Di Bella, G, additional, Rapezzi, C, additional, Sinagra, G, additional, and Merlo, M, additional
Published: 2022
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10. Current patterns of beta-blocker prescription in cardiac amyloidosis: an Italian nationwide survey

Author: Tini, G, Cappelli, F, Biagini, E, Musumeci, B, Merlo, M, Crotti, L, Cameli, M, Di Bella, G, Cipriani, A, Marzo, F, Guerra, F, Forleo, C, Gagliardi, C, Zampieri, M, Carigi, S, Vianello, P, Mandoli, G, Ciliberti, G, Lichelli, L, Mariani, D, Porcari, A, Russo, D, Licordari, R, Ponziani, A, Porto, I, Perfetto, F, Autore, C, Rapezzi, C, Sinagra, G, Canepa, M, Tini G., Cappelli F., Biagini E., Musumeci B., Merlo M., Crotti L., Cameli M., Di Bella G., Cipriani A., Marzo F., Guerra F., Forleo C., Gagliardi C., Zampieri M., Carigi S., Vianello P. F., Mandoli G. E., Ciliberti G., Lichelli L., Mariani D., Porcari A., Russo D., Licordari R., Ponziani A., Porto I., Perfetto F., Autore C., Rapezzi C., Sinagra G., Canepa M., Tini, G, Cappelli, F, Biagini, E, Musumeci, B, Merlo, M, Crotti, L, Cameli, M, Di Bella, G, Cipriani, A, Marzo, F, Guerra, F, Forleo, C, Gagliardi, C, Zampieri, M, Carigi, S, Vianello, P, Mandoli, G, Ciliberti, G, Lichelli, L, Mariani, D, Porcari, A, Russo, D, Licordari, R, Ponziani, A, Porto, I, Perfetto, F, Autore, C, Rapezzi, C, Sinagra, G, Canepa, M, Tini G., Cappelli F., Biagini E., Musumeci B., Merlo M., Crotti L., Cameli M., Di Bella G., Cipriani A., Marzo F., Guerra F., Forleo C., Gagliardi C., Zampieri M., Carigi S., Vianello P. F., Mandoli G. E., Ciliberti G., Lichelli L., Mariani D., Porcari A., Russo D., Licordari R., Ponziani A., Porto I., Perfetto F., Autore C., Rapezzi C., Sinagra G., and Canepa M.
Abstract: Aims: The use of beta-blocker therapy in cardiac amyloidosis (CA) is debated. We aimed at describing patterns of beta-blocker prescription through a nationwide survey. Methods and results: From 11 referral centres, we retrospectively collected data of CA patients with a first evaluation after 2016 (n = 642). Clinical characteristics at first and last evaluation were collected, with a focus on medical therapy. For patients in whom beta-blocker therapy was started, stopped, or continued between first and last evaluation, the main reason for beta-blocker management was requested. Median age of study population was 77 years; 81% were men. Arterial hypertension was found in 58% of patients, atrial fibrillation (AF) in 57%, and coronary artery disease in 16%. Left ventricular ejection fraction was preserved in 62% of cases, and 74% of patients had advanced diastolic dysfunction. Out of the 250 CA patients on beta-blockers at last evaluation, 215 (33%) were already taking this therapy at first evaluation, while 35 (5%) were started it, in both cases primarily because of high-rate AF. One-hundred-nineteen patients (19%) who were on beta-blocker at first evaluation had this therapy withdrawn, mainly because of intolerance in the presence of heart failure with advanced diastolic dysfunction. The remaining 273 patients (43%) had never received beta-blocker therapy. Beta-blockers usage was similar between CA aetiologies. Patients taking vs. not taking beta-blockers differed only for a greater prevalence of arterial hypertension, coronary artery disease, AF, and non-restrictive filling pattern (P < 0.01 for all) in the former group. Conclusions: Beta-blockers prescription is not infrequent in CA. Such therapy may be tolerated in the presence of co-morbidities for which beta-blockers are routinely used and in the absence of advanced diastolic dysfunction.
Published: 2021

11. A national survey on prevalence of possible echocardiographic red flags of amyloid cardiomyopathy in consecutive patients undergoing routine echocardiography: study design and patients characterization-the first insight from the AC-TIVE Study

Author: Merlo, M, Porcari, A, Pagura, L, Cameli, M, Vergaro, G, Musumeci, B, Biagini, E, Canepa, M, Crotti, L, Imazio, M, Forleo, C, Cappelli, F, Favale, S, Di Bella, G, Dore, F, Lombardi, C, Pavasini, R, Rella, V, Palmiero, G, Caiazza, M, Albanese, M, Guaricci, A, Branzi, G, Caponetti, A, Saturi, G, La Malfa, G, Merlo, A, Andreis, A, Bruno, F, Longo, F, Sfriso, E, Di Ienno, L, De Carli, G, Giacomin, E, Spini, V, Milidoni, A, Limongelli, G, Autore, C, Olivotto, I, Badano, L, Parati, G, Perlini, S, Metra, M, Emdin, M, Rapezzi, C, Sinagra, G, Merlo, Marco, Porcari, Aldostefano, Pagura, Linda, Cameli, Matteo, Vergaro, Giuseppe, Musumeci, Beatrice, Biagini, Elena, Canepa, Marco, Crotti, Lia, Imazio, Massimo, Forleo, Cinzia, Cappelli, Francesco, Favale, Stefano, Di Bella, Gianluca, Dore, Franca, Lombardi, Carlo Mario, Pavasini, Rita, Rella, Valeria, Palmiero, Giuseppe, Caiazza, Martina, Albanese, Miriam, Guaricci, Andrea Igoren, Branzi, Giovanna, Caponetti, Angelo Giuseppe, Saturi, Giulia, La Malfa, Giovanni, Merlo, Andrea Carlo, Andreis, Alessandro, Bruno, Francesco, Longo, Francesca, Sfriso, Enrico, Di Ienno, Luca, De Carli, Giuseppe, Giacomin, Elisa, Spini, Valentina, Milidoni, Antonino, Limongelli, Giuseppe, Autore, Camillo, Olivotto, Iacopo, Badano, Luigi, Parati, Gianfranco, Perlini, Stefano, Metra, Marco, Emdin, Michele, Rapezzi, Claudio, Sinagra, Gianfranco, Merlo, M, Porcari, A, Pagura, L, Cameli, M, Vergaro, G, Musumeci, B, Biagini, E, Canepa, M, Crotti, L, Imazio, M, Forleo, C, Cappelli, F, Favale, S, Di Bella, G, Dore, F, Lombardi, C, Pavasini, R, Rella, V, Palmiero, G, Caiazza, M, Albanese, M, Guaricci, A, Branzi, G, Caponetti, A, Saturi, G, La Malfa, G, Merlo, A, Andreis, A, Bruno, F, Longo, F, Sfriso, E, Di Ienno, L, De Carli, G, Giacomin, E, Spini, V, Milidoni, A, Limongelli, G, Autore, C, Olivotto, I, Badano, L, Parati, G, Perlini, S, Metra, M, Emdin, M, Rapezzi, C, Sinagra, G, Merlo, Marco, Porcari, Aldostefano, Pagura, Linda, Cameli, Matteo, Vergaro, Giuseppe, Musumeci, Beatrice, Biagini, Elena, Canepa, Marco, Crotti, Lia, Imazio, Massimo, Forleo, Cinzia, Cappelli, Francesco, Favale, Stefano, Di Bella, Gianluca, Dore, Franca, Lombardi, Carlo Mario, Pavasini, Rita, Rella, Valeria, Palmiero, Giuseppe, Caiazza, Martina, Albanese, Miriam, Guaricci, Andrea Igoren, Branzi, Giovanna, Caponetti, Angelo Giuseppe, Saturi, Giulia, La Malfa, Giovanni, Merlo, Andrea Carlo, Andreis, Alessandro, Bruno, Francesco, Longo, Francesca, Sfriso, Enrico, Di Ienno, Luca, De Carli, Giuseppe, Giacomin, Elisa, Spini, Valentina, Milidoni, Antonino, Limongelli, Giuseppe, Autore, Camillo, Olivotto, Iacopo, Badano, Luigi, Parati, Gianfranco, Perlini, Stefano, Metra, Marco, Emdin, Michele, Rapezzi, Claudio, and Sinagra, Gianfranco
Published: 2022

12. C64 UNMASKING THE PREVALENCE OF AMYLOID CARDIOMYOPATHY IN THE REAL WORLD: RESULTS FROM PHASE 2 OF AC–TIVE STUDY, AN ITALIAN NATIONWIDE SURVEY

Author: Merlo, M, primary, Pagura, L, additional, Porcari, A, additional, Cameli, M, additional, Vergaro, G, additional, Musumeci, B, additional, Biagini, E, additional, Canepa, M, additional, Crotti, L, additional, Imazio, M, additional, Forleo, C, additional, Cappelli, F, additional, Favale, S, additional, Di Bella, G, additional, Dore, F, additional, Girardi, F, additional, Tomasoni, D, additional, Pavasini, R, additional, Rella, V, additional, Palmiero, G, additional, Caiazza, M, additional, Albanese, M, additional, Igoren Guarrucci, A, additional, Branzi, G, additional, Caponetti, A, additional, Saturi, G, additional, La Malfa, G, additional, Merlo, A, additional, Andreis, A, additional, Bruno, F, additional, Longo, F, additional, Rossi, M, additional, Varra‘, G, additional, Saro, R, additional, Di Ienno, L, additional, De Carli, G, additional, Giacomin, E, additional, Spini, V, additional, Limongelli, G, additional, Autore, C, additional, Olivotto, I, additional, Badano, L, additional, Parati, G, additional, Perlini, S, additional, Metra, M, additional, Emdin, M, additional, Rapezzi, C, additional, and Sinagra, G, additional
Published: 2022
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13. P3691Intra-aortic balloon counterpulsation in takotsubo syndrome complicated by cardiogenic shock: short- and long-term results from a cohort of 2250 patients of the German-Italian-Spanish registry

Author: Santoro, F, primary, Nunez-Gil, I.-J, additional, Stiermaier, T, additional, El-Battrawy, I, additional, Guerra, F, additional, Arcari, L, additional, Musumeci, B, additional, Novo, G, additional, Cannone, M, additional, Almendro, M, additional, Sionis, A, additional, Akin, I, additional, Thiele, H, additional, Eitel, I, additional, and Brunetti, N D, additional
Published: 2019
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14. Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease

Author: Concolino, D, Degennaro, E, Parini, R, Antuzzi, D, Bembi, B, Benso, A, Carraro, G, Chimenti, C, Colla, L, Cuonzo, M, Del Rosso, G, Diomedi, M, Feliciani, C, Feriozzi, S, Ficcadenti, A, Frustaci, A, Gnarra, M, Maccarone, M, Mancuso, M, Matucci, A, Mignani, R, Musumeci, B, Nencini, P, Piga, S, Pisani, A, Re, F, Salviati, A, Spada, M, Vultaggio, A, Zachara, Zedde, E, Zoli, P, Concolino, D., Degennaro, E., Parini, R., Antuzzi, D., Bembi, B., Benso, A., Carraro, G., Chimenti, C., Colla, L., Cuonzo, M. T., Del Rosso, G., Diomedi, M., Feliciani, C., Feriozzi, S., Ficcadenti, A., Frustaci, A., Gnarra, M., Maccarone, M., Mancuso, M., Matucci, A., Mignani, R., Musumeci, B., Nencini, P., Piga, S., Pisani, A., Re, F., Salviati, A., Spada, M., Vultaggio, A., Zachara, E., Zedde, M. L., and Zoli, P. G.
Subjects: Male, medicine.medical_specialty, Delphi Technique, Vital signs, Delphi method, Practice Patterns, Disease, Electrocardiography, Fabry disease, diagnosis, treatment, management, Diagnosis, Ambulatory, Biopsy, Internal Medicine, Medicine, Humans, Enzyme Replacement Therapy, Disease management (health), Practice Patterns, Physicians', Intensive care medicine, Adverse effect, Settore MED/14 - Nefrologia, Physicians', medicine.diagnostic_test, business.industry, Management, Treatment, Disease Management, Disease Progression, Electrocardiography, Ambulatory, Fabry Disease, Female, Genetic Diseases, X-Linked, Physician's Practice Patterns, Medicine (all), Enzyme replacement therapy, X-Linked, medicine.disease, Settore MED/03 - Genetica Medica, Genetic Diseases, Physical therapy, Settore MED/26 - Neurologia, business, Diagnosi, Human
Abstract: Background Management of Anderson–Fabry disease (AFD) is contentious, particularly regarding enzyme replacement therapy (ERT). We report results of a Delphi consensus panel on AFD management. Methods A survey to gauge consensus among AFD experts was distributed online and responses were analysed. Statements on: 1) diagnosis; 2) when starting ERT; 3) management of ERT infusion and adverse reactions; and 4) follow-up/monitoring response to therapy and progression of disease were included. Responses without consensus were discussed with an enlarged panel and modified to reach consensus. Results 15 experts responded to the survey. After plenary discussion among the enlarged panel, consensus was reached on most statements. Key points were the use of a target organ biopsy to show Gb3 deposits in symptomatic women with negative molecular analysis, the need for ERT in symptomatic women and in all patients with persistent signs and symptoms ± organ damage. It was agreed to assess vital signs before ERT administration and use a 0.2 μL filter on infusion to reduce the risk of adverse reactions, that serum should be drawn prior to the first infusion for anti-agalsidase antibody analysis to have a baseline value if a subsequent adverse reaction appears, and that pre-medication is required in those with prior infusion reactions. Holter ECG monitoring, cardiac and brain MRI, renal parameters, and abdominal ultrasound were considered important for the assessment of disease progression and response at ERT. Conclusions This consensus supplies guidance to healthcare providers on best practice in the management of patients with AFD and indicates a need for more guidance.
Published: 2014

15. Functional cross-talk between angiotensin II and EGF receptors in NIH3T3 fibroblasts

Author: DE PAOLIS P, SAVOIA C, LOMBARDI A, GIGANTE B, FRATI G, RUBATTU S, MUSUMECI B, VOLPE M., PORCELLINI, ANTONIO, DE PAOLIS, P, Porcellini, Antonio, Savoia, C, Lombardi, A, Gigante, B, Frati, G, Rubattu, S, Musumeci, B, and Volpe, M.
Published: 2002

16. Miocarditi e pericarditi

Author: Musumeci, B and Autore, Camillo
Published: 2011

17. RAZIONALE E BASI FISIOPATOLOGICHE DELL’IMPIEGO DEGLI ANTAGONISTI DELL’ANGIOTENSINA II NELLA GESTIONE ANTIPERTENSIVA DEL PAZIENTE DIABETICO

Author: Volpe, Massimo, Savoia, Carmine, Russo, A, Musumeci, B, and Piras, O.
Published: 2001

18. Update on phase II studies of erythropoietin in acute myocardial infarction. Rationale and design of Exogenous erythroPoietin in Acute Myocardial Infarction: New Outlook aNd Dose Association Study (EPAMINONDAS)

Author: Andreotti, Felicita, Agati, L, Conti, Elena, Santucci, Eleonora, Rio, Teresa, Tarantino, Federica, Natale, Luigi, Berardi, Donato, Mattatelli, A, Musumeci, B, Bonomo, Lorenzo, Volpe, M, Crea, F, Autore, C, Andreotti, Felicita (ORCID:0000-0002-1456-6430), Natale, Luigi (ORCID:0000-0002-7949-5119), Bonomo, Lorenzo (ORCID:0000-0001-5101-9367), Crea, F (ORCID:0000-0001-9404-8846), Andreotti, Felicita, Agati, L, Conti, Elena, Santucci, Eleonora, Rio, Teresa, Tarantino, Federica, Natale, Luigi, Berardi, Donato, Mattatelli, A, Musumeci, B, Bonomo, Lorenzo, Volpe, M, Crea, F, Autore, C, Andreotti, Felicita (ORCID:0000-0002-1456-6430), Natale, Luigi (ORCID:0000-0002-7949-5119), Bonomo, Lorenzo (ORCID:0000-0001-5101-9367), and Crea, F (ORCID:0000-0001-9404-8846)
Abstract: Erythropoietin (Epo) is a hematopoietic hormone produced mainly by the kidneys in response to hypoxia. Recent acquisitions in the fields of hematology, neurology, cardiology, and experimental medicine show cytoprotective, angiogenetic and antiinflammatory effects of Epo. Exogenous erythroPoietin in Acute Myocardial Infarction: New Outlook aNd Dose Association Study (EPAMINONDAS, EudraCTno. 200500485386) is one of four ongoing randomized controlled trials, each testing the effects of Epo in >or=100 patients with STEMI. EPAMINONDAS is a multicenter, prospective, double-blind, placebo-controlled, dose-finding study assessing intravenous moderate doses of human recombinant Epo (epoietin-alpha, 100 or 200 IU/kg/die) versus placebo, given on the first 3 days, in 102 patients with first ST-segment elevation myocardial infarction. Initial dosing is within 12 h of primary percutaneous coronary revascularization. The primary endpoint is infarct size, quantified by CK-MB time-concentration curve, left ventricular wall motion score index, and pattern of contrast-enhanced magnetic resonance imaging. Secondary endpoints are ischemic recurrences, ventricular remodelling, and safety events, assessed in-hospital and at 12 months' follow-up. The results of current phase II studies will help define the safety/efficacy profile of Epo for patients with STEMI.
Published: 2009

19. Simultaneous Takotsubo syndrome in two sisters

Author: Musumeci, B., primary, Saponaro, A., additional, Pagannone, E., additional, Proietti, G., additional, Mastromarino, V., additional, Conti, E., additional, Tubaro, M., additional, Volpe, M., additional, and Autore, C., additional
Published: 2013
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20. Lack of Influence of the Androgen Receptor Gene CAG-Repeat Polymorphism on Clinical and Electrocardiographic Manifestations of the Brugada Syndrome in Man

Author: Mariani, S., primary, Musumeci, B., additional, Basciani, S., additional, Fiore, D., additional, Francia, P., additional, Persichetti, A., additional, Volpe, M., additional, Autore, C., additional, Moretti, C., additional, Ulisse, S., additional, and Gnessi, L., additional
Published: 2012
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21. Nitric Oxide Release Is Impaired in Hypertensive Individuals With Familial History of Stroke

Author: COSENTINO, F, primary, FRANCIA, P, additional, MUSUMECI, B, additional, DESIATI, L, additional, RAO, M, additional, DELUCA, N, additional, BALLA, C, additional, DESENSI, F, additional, and VOLPE, M, additional
Published: 2006
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22. Lack of Influence of the Androgen Receptor Gene CAGRepeat Polymorphism on Clinical and Electrocardiographic Manifestations of the Brugada Syndrome in Man.

Author: Mariani, S., Musumeci, B., Basciani, S., Fiore, D., Francia, P., Persichetti, A., Volpe, M., Autore, C., Moretti, C., Ulisse, S., and Gnessi, L.
Subjects: *ACADEMIC medical centers, *ANDROGENS, *BLOOD testing, *CELL receptors, *STATISTICAL correlation, *ELECTROCARDIOGRAPHY, *ENZYME-linked immunosorbent assay, *GENETIC polymorphisms, *MULTIVARIATE analysis, *GENETIC mutation, *REGRESSION analysis, *RESEARCH funding, *BRUGADA syndrome, *EQUIPMENT & supplies, *DATA analysis software, *DESCRIPTIVE statistics
Abstract: Background: Clinical studies suggest that testosterone (T) plays an important role in the male predominance of the clinical manifestations of the Brugada syndrome (BS). However, no statistically significant correlations have been observed between T levels and electrocardiogram (ECG) parameters in the BS patients. We investigated whether the hormonal pattern and the variation within CAG repeat polymorphism in exon 1 of the androgen receptor (AR) gene, affecting androgen sensitivity, are associated with the Brugada ECG phenotype in males. Methods and Results: 16 male patients with BS (mean age 45.06 ± 11.3 years) were studied. 12-lead ECG was recorded. Blood levels of follicle-stimulating hormone, luteinizing hormone, prolactin, testosterone, free-T, dihydrotestosterone, 17- β-estradiol, estrone, 3-alpha-androstanediol-glucuronide, delta-4-androstenedione, dehydroepiandrosterone sulphate, progesterone, 17- hydroxyprogesterone, and sex hormone binding globulin were assayed. Genotyping of CAG repeats on DNA extracted from leukocytes was carried out. No relationship was found between hormone values and ECG parameters of BS. BS patients showed the CAG length normally recognized in the human polymorphism range and the number of CAG repeats did not correlate with the ECG pattern of BS. Conclusions: The AR CAG repeat length does not correlate with the ECG features of the patients affected by BS. The search for genes downstream AR activation as possibly responsible for the increased risk of spontaneous arrhythmias in BS males after puberty is warranted. [ABSTRACT FROM AUTHOR]
Published: 2012
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23. Angiotensin II AT2 receptor subtype: an uprising frontier in cardiovascular disease?

Author: Volpe M, Musumeci B, De Paolis P, Savoia C, Morganti A, Volpe, Massimo, Musumeci, Beatrice, De Paolis, Paola, Savoia, Carmine, and Morganti, Alberto
Published: 2003
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24. Cardiological assessment of surviving family members of sudden cardiac death victims: Diagnostic yield | Screening cardiologico delle famiglie con storia di morte improvvisa giovanile: Quali patologie ricercare e con quali strumenti

Author: camillo autore, Pagannone, E., Re, F., Romeo, D., Musumeci, B., Baratta, P., Marino, L., Cauti, F. M., and Zachara, E.

25. 549VP High dose intravenous corticosteroids in refractory immune checkpoint inhibitor-related myocarditis/myositis/myasthenia overlap syndrome.

Author: Forcina, F., Tufano, L., Lauletta, A., Morino, S., Musumeci, B., Antonini, G., and Garibaldi, M.
Subjects: *DRUG side effects, *IMMUNE checkpoint inhibitors, *MUSCLE weakness, *NEURAL stimulation, *IMMUNE checkpoint proteins
Abstract: Immune Checkpoint Inhibitors (ICIs) represent a major progress in cancer therapy. However, their mechanism of action may result in a spectrum of immune-related adverse events, among which neuromuscular and cardiac complications. Herein we report on a case of a 47-year-old woman with metastatic lung adenocarcinoma who received first line therapy with Nivolumab and Ipilimumab associated with Carboplatin and Pemetrexed. Two weeks after the first infusion she developed fluctuating ptosis, ophthalmoplegia with diplopia, dysphagia and dyspnea, associated with mild distal weakness of upper limbs. ECG, laboratory exams and echocardiography showed data suggestive of myocarditis with troponin over 13.000 pg/ml. CK levels were also elevated over 6000 UI/L. Extensor digitorum communis muscle biopsy revealed inflammatory findings consistent with myositis. Repetitive nerve stimulation, anti-AChR and anti-MuSK antibodies resulted negative. She started prednisone 1 mg/kg/day, IVIg (2 gr/kg) and pyridostigmine 60 mg tid with only mild reduction of CK levels. Because of persistently elevated troponin and poor clinical response, she received intravenous methylprednisolone 1 gr/day for 5 days followed by striking reduction of troponin levels and clinical improvement. At one month follow-up, no laboratory signs of myocarditis and myositis were detectable with regression of distal upper limb weakness and milder ophthalmoparesis and ptosis. myocarditis/myositis/myasthenia overlap syndrome is an increasingly reported life-threatening adverse event related to ICIs which must be promptly diagnosed and treated. Intravenous methylprednisolone could represent an effective first line therapy in case of severe ICIs-related myocarditis/myositis/myasthenia association. [ABSTRACT FROM AUTHOR]
Published: 2024
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26. Current patterns of beta-blocker prescription in cardiac amyloidosis: an Italian nationwide survey

Author: Alberto Ponziani, Mattia Zampieri, Marco Merlo, Aldostefano Porcari, Beatrice Musumeci, Francesca Marzo, Domitilla Russo, Cinzia Forleo, Marco Canepa, Italo Porto, Lia Crotti, Elena Biagini, Giulia Elena Mandoli, Claudio Rapezzi, Christian Gagliardi, Roberto Licordari, Giafranco Sinagra, Federico Guerra, Giacomo Tini, Luca Lichelli, Francesco Cappelli, Federico Perfetto, Matteo Cameli, Pier Filippo Vianello, Camillo Autore, Davide Mariani, Gianluca Di Bella, Samuela Carigi, Giuseppe Ciliberti, Alberto Cipriani, Tini, G., Cappelli, F., Biagini, E., Musumeci, B., Merlo, M., Crotti, L., Cameli, M., Di Bella, G., Cipriani, A., Marzo, F., Guerra, F., Forleo, C., Gagliardi, C., Zampieri, M., Carigi, S., Vianello, P. F., Mandoli, G. E., Ciliberti, G., Lichelli, L., Mariani, D., Porcari, A., Russo, D., Licordari, R., Ponziani, A., Porto, I., Perfetto, F., Autore, C., Rapezzi, C., Sinagra, G., Canepa, M., Tini, G, Cappelli, F, Biagini, E, Musumeci, B, Merlo, M, Crotti, L, Cameli, M, Di Bella, G, Cipriani, A, Marzo, F, Guerra, F, Forleo, C, Gagliardi, C, Zampieri, M, Carigi, S, Vianello, P, Mandoli, G, Ciliberti, G, Lichelli, L, Mariani, D, Porcari, A, Russo, D, Licordari, R, Ponziani, A, Porto, I, Perfetto, F, Autore, C, Rapezzi, C, Sinagra, G, and Canepa, M
Subjects: Male, medicine.medical_specialty, medicine.drug_class, Short Communication, Left, Diastole, Short Communications, Heart failure, 030204 cardiovascular system & hematology, Beta‐blockers, Cardiac amyloidosis, Transthyretin, Ventricular Function, Left, NO, Coronary artery disease, 03 medical and health sciences, Beta-blockers, 0302 clinical medicine, Internal medicine, Cardiac amyloidosi, medicine, Diseases of the circulatory (Cardiovascular) system, Humans, Ventricular Function, Light chains, 030212 general & internal medicine, Beta-blocker, Medical prescription, Beta blocker, Aged, Retrospective Studies, Light chain, Ejection fraction, business.industry, Atrial fibrillation, Italy, Prescriptions, Stroke Volume, Amyloidosis, medicine.disease, RC666-701, Cardiology and Cardiovascular Medicine, business
Abstract: Aims The use of beta‐blocker therapy in cardiac amyloidosis (CA) is debated. We aimed at describing patterns of beta‐blocker prescription through a nationwide survey. Methods and results From 11 referral centres, we retrospectively collected data of CA patients with a first evaluation after 2016 (n = 642). Clinical characteristics at first and last evaluation were collected, with a focus on medical therapy. For patients in whom beta‐blocker therapy was started, stopped, or continued between first and last evaluation, the main reason for beta‐blocker management was requested. Median age of study population was 77 years; 81% were men. Arterial hypertension was found in 58% of patients, atrial fibrillation (AF) in 57%, and coronary artery disease in 16%. Left ventricular ejection fraction was preserved in 62% of cases, and 74% of patients had advanced diastolic dysfunction. Out of the 250 CA patients on beta‐blockers at last evaluation, 215 (33%) were already taking this therapy at first evaluation, while 35 (5%) were started it, in both cases primarily because of high‐rate AF. One‐hundred‐nineteen patients (19%) who were on beta‐blocker at first evaluation had this therapy withdrawn, mainly because of intolerance in the presence of heart failure with advanced diastolic dysfunction. The remaining 273 patients (43%) had never received beta‐blocker therapy. Beta‐blockers usage was similar between CA aetiologies. Patients taking vs. not taking beta‐blockers differed only for a greater prevalence of arterial hypertension, coronary artery disease, AF, and non‐restrictive filling pattern (P
Published: 2021

27. A national survey on prevalence of possible echocardiographic red flags of amyloid cardiomyopathy in consecutive patients undergoing routine echocardiography: study design and patients characterization — the first insight from the AC-TIVE Study

Author: Matteo Cameli, Elisa Giacomin, Marco Metra, Giuseppe Limongelli, Stefano Favale, Martina Caiazza, Antonino Milidoni, Carlo Lombardi, Marco Merlo, Lia Crotti, Angelo Giuseppe Caponetti, Andrea Carlo Merlo, Francesco Cappelli, Alessandro Andreis, Valentina Spini, Camillo Autore, Rita Pavasini, Beatrice Musumeci, Iacopo Olivotto, Michele Emdin, Francesco Bruno, Marco Canepa, Luigi P. Badano, Giuseppe De Carli, Giulia Saturi, Cinzia Forleo, Giuseppe Vergaro, Miriam Albanese, Massimo Imazio, Luca Di Ienno, Giovanna Branzi, Andrea Igoren Guaricci, Claudio Rapezzi, Gianluca Di Bella, Gianfranco Sinagra, Linda Pagura, Valeria Rella, Gianfranco Parati, Giovanni La Malfa, Stefano Perlini, Enrico Sfriso, Aldostefano Porcari, Elena Biagini, Giuseppe Palmiero, Francesca Longo, Franca Dore, Merlo, Marco, Porcari, Aldostefano, Pagura, Linda, Cameli, Matteo, Vergaro, Giuseppe, Musumeci, Beatrice, Biagini, Elena, Canepa, Marco, Crotti, Lia, Imazio, Massimo, Forleo, Cinzia, Cappelli, Francesco, Favale, Stefano, Di Bella, Gianluca, Dore, Franca, Lombardi, Carlo Mario, Pavasini, Rita, Rella, Valeria, Palmiero, Giuseppe, Caiazza, Martina, Albanese, Miriam, Guaricci, Andrea Igoren, Branzi, Giovanna, Caponetti, Angelo Giuseppe, Saturi, Giulia, La Malfa, Giovanni, Merlo, Andrea Carlo, Andreis, Alessandro, Bruno, Francesco, Longo, Francesca, Sfriso, Enrico, Di Ienno, Luca, De Carli, Giuseppe, Giacomin, Elisa, Spini, Valentina, Milidoni, Antonino, Limongelli, Giuseppe, Autore, Camillo, Olivotto, Iacopo, Badano, Luigi, Parati, Gianfranco, Perlini, Stefano, Metra, Marco, Emdin, Michele, Rapezzi, Claudio, Sinagra, Gianfranco, Merlo, M, Porcari, A, Pagura, L, Cameli, M, Vergaro, G, Musumeci, B, Biagini, E, Canepa, M, Crotti, L, Imazio, M, Forleo, C, Cappelli, F, Favale, S, Di Bella, G, Dore, F, Lombardi, C, Pavasini, R, Rella, V, Palmiero, G, Caiazza, M, Albanese, M, Guaricci, A, Branzi, G, Caponetti, A, Saturi, G, La Malfa, G, Merlo, A, Andreis, A, Bruno, F, Longo, F, Sfriso, E, Di Ienno, L, De Carli, G, Giacomin, E, Spini, V, Milidoni, A, Limongelli, G, Autore, C, Olivotto, I, Badano, L, Parati, G, Perlini, S, Metra, M, Emdin, M, Rapezzi, C, and Sinagra, G
Subjects: medicine.medical_specialty, Epidemiology, Socio-culturale, Cardiac amyloidosis, Cardiac amyloidosi, Internal medicine, Prevalence, medicine, Humans, Red-flag, business.industry, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, Amyloidosis, Echocardiography, Red-flags, Cardiomyopathies, Emblems and Insignia, Cardiology, Cardiology and Cardiovascular Medicine, business, Amyloid cardiomyopathy, Red flags
Abstract: N/A
Published: 2021
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28. Unmasking the prevalence of amyloid cardiomyopathy in the real world: results from Phase 2 of the AC-TIVE study, an Italian nationwide survey

Author: Marco Merlo, Linda Pagura, Aldostefano Porcari, Matteo Cameli, Giuseppe Vergaro, Beatrice Musumeci, Elena Biagini, Marco Canepa, Lia Crotti, Massimo Imazio, Cinzia Forleo, Francesco Cappelli, Federico Perfetto, Stefano Favale, Gianluca Di Bella, Franca Dore, Francesca Girardi, Daniela Tomasoni, Rita Pavasini, Valeria Rella, Giuseppe Palmiero, Martina Caiazza, Maria Cristina Carella, Andrea Igoren Guaricci, Giovanna Branzi, Angelo Giuseppe Caponetti, Giulia Saturi, Giovanni La Malfa, Andrea Carlo Merlo, Alessandro Andreis, Francesco Bruno, Francesca Longo, Maddalena Rossi, Guerino Giuseppe Varrà, Riccardo Saro, Luca Di Ienno, Giuseppe De Carli, Elisa Giacomin, Chiara Arzilli, Giuseppe Limongelli, Camillo Autore, Iacopo Olivotto, Luigi Badano, Gianfranco Parati, Stefano Perlini, Marco Metra, Michele Emdin, Claudio Rapezzi, Gianfranco Sinagra, Merlo, Marco, Pagura, Linda, Porcari, Aldostefano, Cameli, Matteo, Vergaro, Giuseppe, Musumeci, Beatrice, Biagini, Elena, Canepa, Marco, Crotti, Lia, Imazio, Massimo, Forleo, Cinzia, Cappelli, Francesco, Perfetto, Federico, Favale, Stefano, Di Bella, Gianluca, Dore, Franca, Girardi, Francesca, Tomasoni, Daniela, Pavasini, Rita, Rella, Valeria, Palmiero, Giuseppe, Caiazza, Martina, Carella, Maria Cristina, Igoren Guaricci, Andrea, Branzi, Giovanna, Caponetti, Angelo Giuseppe, Saturi, Giulia, La Malfa, Giovanni, Merlo, Andrea Carlo, Andreis, Alessandro, Bruno, Francesco, Longo, Francesca, Rossi, Maddalena, Varrà, Guerino Giuseppe, Saro, Riccardo, Di Ienno, Luca, De Carli, Giuseppe, Giacomin, Elisa, Arzilli, Chiara, Limongelli, Giuseppe, Autore, Camillo, Olivotto, Iacopo, Badano, Luigi, Parati, Gianfranco, Perlini, Stefano, Metra, Marco, Emdin, Michele, Rapezzi, Claudio, Sinagra, Gianfranco, Merlo, M, Pagura, L, Porcari, A, Cameli, M, Vergaro, G, Musumeci, B, Biagini, E, Canepa, M, Crotti, L, Imazio, M, Forleo, C, Cappelli, F, Perfetto, F, Favale, S, Di Bella, G, Dore, F, Girardi, F, Tomasoni, D, Pavasini, R, Rella, V, Palmiero, G, Caiazza, M, Carella, M, Igoren Guaricci, A, Branzi, G, Caponetti, A, Saturi, G, La Malfa, G, Merlo, A, Andreis, A, Bruno, F, Longo, F, Rossi, M, Varra, G, Saro, R, Di Ienno, L, De Carli, G, Giacomin, E, Arzilli, C, Limongelli, G, Autore, C, Olivotto, I, Badano, L, Parati, G, Perlini, S, Metra, M, Emdin, M, Rapezzi, C, Sinagra, G, and Michele, Emdin
Subjects: Amyloid cardiomyopathy, Echocardiography, Epidemiology, Light chain amyloidosis, Red flags, Transthyretin amyloidosis, Heart Failure, Left, Stroke Volume, Amyloidosis, Middle Aged, Ventricular Function, Left, Humans, Prevalence, Prospective Studies, Cardiomyopathies, Ventricular Function, Light chain amyloidosi, Red flag, Cardiology and Cardiovascular Medicine
Abstract: Aim: To investigate the prevalence of amyloid cardiomyopathy (AC) and the diagnostic accuracy of echocardiographic red flags of AC among consecutive adult patients undergoing transthoracic echocardiogram for reason other than AC in 13 Italian institutions. Methods and results: This is an Italian prospective multicentre study, involving a clinical and instrumental work-up to assess AC prevalence among patients ≥55 years old with an echocardiogram suggestive of AC (i.e. at least one echocardiographic red flag of AC in hypertrophic, non-dilated left ventricles with preserved ejection fraction). The study was registered at ClinicalTrials.gov (NCT04738266). Overall, 381 patients with an echocardiogram suggestive of AC were identified among a cohort of 5315 screened subjects, and 217 patients completed the investigations. A final diagnosis of AC was made in 62 patients with an estimated prevalence of 29% (95% confidence interval 23%–35%). Transthyretin-related AC (ATTR-AC) was diagnosed in 51 and light chain-related AC (AL-AC) in 11 patients. Either apical sparing or a combination of ≥2 other echocardiographic red flags, excluding interatrial septum thickness, provided a diagnostic accuracy >70%. Conclusion: In a cohort of consecutive adults with echocardiographic findings suggestive of AC and preserved left ventricular ejection fraction, the prevalence of AC (either ATTR or AL) was 29%. Easily available echocardiographic red flags, when combined together, demonstrated good diagnostic accuracy.
Published: 2022

29. Real-world versus trial patients with transthyretin amyloid cardiomyopathy

Author: Francesco Cappelli, Roberta Mussinelli, Agnese Milandri, Giacomo Tini, Marco Canepa, Claudio Rapezzi, Camillo Autore, Federico Perfetto, Beatrice Musumeci, Stefano Perlini, Canepa M., Tini G., Musumeci B., Cappelli F., Milandri A., Mussinelli R., Autore C., Perfetto F., Rapezzi C., and Perlini S.
Subjects: Male, medicine.medical_specialty, Benzoxazole, transthyretin amyloid cardiomyopathy, amyloidosis transthyretin, transthyretin, NO, Rare Diseases, Internal medicine, Diuretic, Medicine, tafamidis, cardiomyopathy, amyloid, Aged, Cardiomyopathie, Aged, 80 and over, Amyloid Neuropathies, Familial, Clinical Trials as Topic, biology, business.industry, cardiac amyloidosis, Angiotensin-Converting Enzyme Inhibitor, medicine.disease, Transthyretin, Amyloid Neuropathy, Cardiovascular Agent, Heart failure, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, biology.protein, Cardiology, Female, Cardiology and Cardiovascular Medicine, business, Amyloid cardiomyopathy, Human
Abstract: Research letter - no abstract
Published: 2019

30. Determinants of peak oxygen uptake in patients with hypertrophic cardiomyopathy: a single-center study

Author: Massimo Volpe, Damiano Magrì, Erika Pagannone, Gabriele Egidy Assenza, Andrea Serdoz, Agnese Ricotta, Camillo Autore, Daria Santini, Giuseppe Muscogiuri, G. Proietti, Filippo Maria Cauti, Piergiuseppe Agostoni, Francesco Paneni, Beatrice Musumeci, Laura Marino, Carlo N. De Cecco, Antonello Maruotti, Magri', D, Agostoni, P, CAUTI F., M, Musumeci, B, ASSENZA G., E, DE CECCO C., N, Muscogiuri, G, Maruotti, Antonello, Ricotta, A, Pagannone, E, Marino, L, Santini, D, Proietti, G, Serdoz, A, Paneni, F, Volpe, M, Autore, C., Magrì, D, Cauti, F, Egidy Assenza, G, De Cecco, C, Maruotti, A, and Autore, C
Subjects: Male, medicine.medical_specialty, Population, Cardiomyopathy, Context (language use), Doppler echocardiography, cardiopulmonary exercise test, chronotropic incompetence, hypertrophyc cardiomyopathy, Hypertrophyc cardiomyopathy, Internal medicine, Internal Medicine, medicine, Humans, Ventricular outflow tract, cardiovascular diseases, education, Cardiopulmonary exercise test, education.field_of_study, Ejection fraction, medicine.diagnostic_test, business.industry, Hypertrophic cardiomyopathy, Chronotropic incompetence, VO2 max, Cardiomyopathy, Hypertrophic, Middle Aged, medicine.disease, Oxygen, Cross-Sectional Studies, Exercise Test, cardiovascular system, Emergency Medicine, Cardiology, Female, business
Abstract: Most patients with hypertrophic cardiomyopathy (HCM) usually complain of a reduced exercise capacity, and several factors have been advocated as possible causes of this clinical feature. The present single-center study was designed to investigate exercise capacity and its main clinical determinants in HCM patients. One hundred ninety seven patients of 223 evaluated underwent a complete clinical assessment, including Doppler echocardiography, cardiopulmonary exercise test (CPET) and, in most cases, cardiac magnetic resonance. The HCM population (male 75 %; age 47 ± 16 years; NYHA class I or II 95 %; left ventricular ejection fraction 61 ± 3 %; resting left ventricular outflow tract gradient ≥30 mmHg 22 %; late gadolinium enhancement presence 58 %) showed slightly reduced mean peak oxygen uptake values (pVO2 75 ± 15 %, 23.2 ± 6.7 ml/kg/min) with a significant reduction of the achieved percentage of peak heart rate reserve (%pHRR 65 ± 20 %). Adopting a pVO2
Published: 2014

31. Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy

Author: Francesca Girolami, Attilio Iacovoni, Elena Biagini, Giuseppe Limongelli, Maria Isola Parodi, Camillo Autore, Franco Cecchi, Giulia Frisso, Martin S. Maron, Massimiliano Cecconi, Claudio Rapezzi, Paolo Spirito, Stefania Rosmini, Maria Letizia Bacchi Reggiani, Beatrice Musumeci, Barry J. Maron, Maria Iascone, Iacopo Olivotto, Francesco Formisano, Tammy S. Haas, Paolo Ferrazzi, Francesco Salvatore, Biagini, E, Olivotto, I, Iascone, M, Parodi, Mi, Girolami, F, Frisso, G, Autore, C, Limongelli, Giuseppe, Cecconi, M, Maron, Bj, Maron, M, Rosmini, S, Formisano, F, Musumeci, B, Cecchi, F, Iacovoni, A, Haas, T, Bacchi reggiani, Ml, Ferrazzi, P, Salavtore, F, Spirito, P, Rapezzi, C., Biagini, Elena, Olivotto, Iacopo, Iascone, Maria, Parodi, Maria I, Girolami, Francesca, Frisso, Giulia, Autore, Camillo, Cecconi, Massimiliano, Maron, Barry J, Maron, Martin S, Rosmini, Stefania, Formisano, Francesco, Musumeci, Beatrice, Cecchi, Franco, Iacovoni, Attilio, Haas, Tammy S, Bacchi Reggiani, Maria L, Ferrazzi, Paolo, Salvatore, Francesco, Spirito, Paolo, Rapezzi, Claudio, Parodi, Maria I., Maron, Barry J., Maron, Martin S., Haas, Tammy S., and Bacchi Reggiani, Maria L.
Subjects: Male, Pathology, TNNT2, DNA Mutational Analysis, TPM1, Gene mutation, Severity of Illness Index, Adult, Aged, Cardiomyopathy, Hypertrophic, Familial, Carrier Proteins, Cross-Sectional Studies, DNA, Echocardiography, Female, Follow-Up Studies, Genotype, Humans, Magnetic Resonance Imaging, Cine, Middle Aged, Myosin Heavy Chains, Pedigree, Prevalence, Retrospective Studies, Sarcomeres, Mutation, Cardiology and Cardiovascular Medicine, Retrospective Studie, Cardiomyopathy, Hypertrophic, Familial, Magnetic Resonance Imaging, Cine, Hypertrophic cardiomyopathy, Sarcomere, Cardiology, Human, medicine.medical_specialty, Follow-Up Studie, NO, DNA Mutational Analysi, Internal medicine, medicine, Cross-Sectional Studie, business.industry, ACTC1, Myosin Heavy Chain, medicine.disease, MYL3, MYL2, MYH7, Carrier Protein, business
Abstract: End-stage hypertrophic cardiomyopathy (ES-HC) has an ominous prognosis. Whether genotype can influence ES-HC occurrence is unresolved. We assessed the spectrum and clinical correlates of HC-associated mutations in a large multicenter cohort with end-stage ES-HC. Sequencing analysis of 8 sarcomere genes (MYH7, MYBPC3, TNNI3, TNNT2, TPM1, MYL2, MYL3, and ACTC1) and 2 metabolic genes (PRKAG2 and LAMP2) was performed in 156 ES-HC patients with left ventricular (LV) ejection fraction (EF)
Published: 2014

32. Risk of sudden death and outcome in patients with hypertrophic cardiomyopathy with benign presentation and without risk factors

Author: Sergio Bongioanni, Francesco Lai, Beatrice Musumeci, Barry J. Maron, Emmanuela Devoto, Elena Biagini, Laura Yeates, Christopher Semsarian, Maria Rosa Conte, Camillo Autore, Tammy S. Haas, Gabriele Egidy Assenza, Francesco Formisano, Luca Boni, Claudio Rapezzi, Paolo Spirito, Spirito, P., Autore, C., Formisano, F., Assenza, G.E., Biagini, E., Haas, T.S., Bongioanni, S., Semsarian, C., Devoto, E., Musumeci, B., Lai, F., Yeates, L., Conte, M.R., Rapezzi, C., Boni, L., and Maron, B.J.
Subjects: Male, medicine.medical_specialty, hypertrophic cardiomyopathy, sudden death, Cardiomyopathy, sudden death, Sudden death, NO, Death, Sudden, Risk Factors, Internal medicine, Atrial Fibrillation, medicine, Humans, In patient, Stroke, Aged, Analysis of Variance, business.industry, Mortality rate, Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic, Middle Aged, hypertrophic cardiomyopathy, medicine.disease, Death, Sudden, Cardiac, Heart failure, Cardiology, Female, Presentation (obstetrics), Cardiology and Cardiovascular Medicine, business, Follow-Up Studies
Abstract: Patients with hypertrophic cardiomyopathy (HC) are reported to have a mortality rate of about 1.0% per year, and those patients without sudden death risk factors and with no or mild symptoms are generally considered to have a benign clinical presentation. However, the risk of sudden death and the outcome in this latter subgroup have not been investigated systematically and remain unresolved. We assessed the risk of sudden death and outcome in 653 consecutive patients with HC without risk factors and with no or mild symptoms. Over a median follow-up of 5.3 years, 35 patients (5.4%) died of HC-related causes. Mean age at death was 46 ± 20 years in patients who died suddenly and 66 ± 15 and 72 ± 9 years, respectively, in patients who died of heart failure or stroke. Event rate was 0.6% per year for sudden death, 0.2% per year for heart failure death, and 0.1% per year for stroke-related death. Sudden death risk was independently and inversely related to age, and risk of heart failure or stroke death was directly related to age (p = 0.020). At 10 years after the initial evaluation, sudden death risk was 5.9%, with sudden death rate being the lowest (0.3% per year) in patients with normal left atrial dimension (≤40 mm). In conclusion, in patients with HC without conventional risk factors and with no or mild symptoms, the risk of sudden death was not negligible, with an event rate of 0.6% per year. Heart failure and stroke-related death were less common and largely confined to older patients. These results underscore the need for a more accurate assessment of the sudden death risk in patients with HC. © 2014 Elsevier Inc. All rights reserved.
Published: 2014

33. 'Unexpectedly Low Mutation Rates in beta-Myosin Heavy Chain and Cardiac Myosin Binding Protein Genes in Italian Patients with Hypertrophic Cardiomyopathy.'

Author: Roberta Roncarati, 1, 2 Michael VG Latronico, 2 Beatrice Musumeci, 3 Stefania Aurino, 4 Annalaura Torella, 5 Marie-Louise Bang, 2, 6 Gloria Saccani Jotti, 7 Annibale A Puca, 2 Massimo Volpe, 3 Vincenzo Nigro, 4, 5 Camillo Autore, 3, Gianluigi Condorelli2, 8, Roncarati, R, Latronico, Mv, Musumeci, B, Aurino, S, Torella, A, Bang, Ml, Jotti, G, Puca, Aa, Volpe, M, Nigro, Vincenzo, Autore, C, and Condorelli, G.
Subjects: Adult, Male, Sarcomeres, Silent mutation, Chest Pain, Mutation rate, Physiology, DNA Mutational Analysis, Molecular Sequence Data, Clinical Biochemistry, Biology, Gene mutation, medicine.disease_cause, Polymorphism, Single Nucleotide, Cohort Studies, Electrocardiography, medicine, Humans, Missense mutation, Original Research Article, Aged, Genetics, Mutation, Base Sequence, Myosin Heavy Chains, Hypertrophic cardiomyopathy, Cell Biology, Cardiomyopathy, Hypertrophic, Middle Aged, medicine.disease, Molecular biology, Stop codon, Italy, cardiovascular system, Female, MYH7, Carrier Proteins, Cardiac Myosins
Abstract: Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disease. Fourteen sarcomeric and sarcomere-related genes have been implicated in HCM etiology, those encoding β-myosin heavy chain (MYH7) and cardiac myosin binding protein C (MYBPC3) reported as the most frequently mutated: in fact, these account for around 50% of all cases related to sarcomeric gene mutations, which are collectively responsible for approximately 70% of all HCM cases. Here, we used denaturing high-performance liquid chromatography followed by bidirectional sequencing to screen the coding regions of MYH7 and MYBPC3 in a cohort (n = 125) of Italian patients presenting with HCM. We found 6 MHY7 mutations in 9/125 patients and 18 MYBPC3 mutations in 19/125 patients. Of the three novel MYH7 mutations found, two were missense, and one was a silent mutation; of the eight novel MYBPC3 mutations, one was a substitution, three were stop codons, and four were missense mutations. Thus, our cohort of Italian HCM patients did not harbor the high frequency of mutations usually found in MYH7 and MYBPC3. This finding, coupled to the clinical diversity of our cohort, emphasizes the complexity of HCM and the need for more inclusive investigative approaches in order to fully understand the pathogenesis of this disease. J. Cell. Physiol. 226: 2894–2900, 2011. © 2011 Wiley-Liss, Inc.
Published: 2011
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34. [Diagnostic-therapeutic care pathways for patients with cardiac amyloidosis - SIC/ANMCO Consensus document. Edited by the Italian Cardiac Amyloidosis Network (RIAC)].

Author: Porcari A, Chimenti C, Merlo M, Musca F, Vergaro G, Iacoviello M, Aimo A, Di Lenarda A, Canepa M, Cappelli F, Cipriani A, Di Bella G, Forleo C, Imazio M, Limongelli G, Longhi S, Musumeci B, Obici L, Perfetto F, Perlini S, Serenelli M, Tomasoni D, Vagnarelli F, Merlini G, Palladini G, Metra M, Colivicchi F, Indolfi C, Grimaldi M, Perrone Filardi P, Emdin M, Sinagra G, and Oliva F
Subjects: Humans, Italy, Prognosis, Critical Pathways, Immunoglobulin Light-chain Amyloidosis diagnosis, Immunoglobulin Light-chain Amyloidosis therapy, Amyloidosis diagnosis, Amyloidosis therapy, Cardiomyopathies diagnosis, Cardiomyopathies therapy
Abstract: The perspective on cardiac amyloidosis has deeply changed over the last 10 years following major advances in diagnosis and treatment options. This heterogeneous disease requires the interaction among experts of different specialties and subspecialties. Suspicion of disease, timely recognition and confirmation of final diagnosis, prognostic stratification, overall management and therapeutic strategies represent ongoing challenges in the clinical setting. Missing or delayed diagnosis may have significant impact on patient outcome, especially in light-chain amyloidosis. The present inter-society consensus document aims to provide a standardized approach to the diagnosis of cardiac amyloidosis in Italy, and to discuss the challenging clinical scenarios encountered in routine activity for cardiologists and physicians of different specialties dealing with patients with suspected or established cardiac amyloidosis. This document may be adapted to the setting of each specific region.
Published: 2024
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35. Renin angiotensin system inhibitors and outcome in patients with takotsubo syndrome: A propensity score analysis of the GEIST registry.

Author: Santoro F, Stiermaier T, Núñez Gil IJ, El-Battrawy I, Pätz T, Cacciotti L, Guerra F, Novo G, Musumeci B, Volpe M, Mariano E, Caldarola P, Montisci R, Ragnatela I, Cetera R, Vazirani R, Lluch C, Uribarri A, Corbi-Pascual M, Conty Cardona DA, Akin I, Barbato E, Thiele H, Brunetti ND, Eitel I, and Arcari L
Subjects: Humans, Female, Male, Aged, Italy epidemiology, Renin-Angiotensin System drug effects, Stroke Volume physiology, Angiotensin Receptor Antagonists therapeutic use, Middle Aged, Treatment Outcome, Prognosis, Follow-Up Studies, Hypertension drug therapy, Hypertension epidemiology, Survival Rate trends, Ventricular Function, Left physiology, Registries, Takotsubo Cardiomyopathy drug therapy, Takotsubo Cardiomyopathy mortality, Takotsubo Cardiomyopathy physiopathology, Propensity Score, Angiotensin-Converting Enzyme Inhibitors therapeutic use
Abstract: Background: Few data are available on long-term drug therapy and its potential prognostic impact after Takotsubo syndrome (TTS). Aim of the study is to evaluate clinical characteristics and long-term outcome of TTS patients on Renin Angiotensin system inhibitors (RASi)., Methods: TTS patients were enrolled in the international multicenter GEIST (GErman Italian Spanish Takotsubo) registry. Median follow-up was 31 (Interquartile range 12-56) months. Comparison of RASi treated vs. untreated patients was performed within the overall population and after 1:1 propensity score matching for age, sex, comorbidities, type of trigger and in-hospital complications., Registration: clinicaltrials.gov, NCT04361994, https://clinicaltrials.gov/study/NCT04361994 RESULTS: Of the 2453 TTS patients discharged alive, 1683 (68%) received RASi therapy. Patients with RASi were older (age 71 ± 11 vs 69 ± 13 years, P = .01), with higher prevalence of hypertension (74% vs 53%, P < .01) and diabetes (19% v s15%, P = .01), higher admission left ventricular ejection fraction (LVEF) (41 ± 11% vs 39 ± 12%, P < .01) and lower rates of in-hospital complications (18.9% vs 29.6%, P < .01). At multivariable analysis, RASi therapy at discharge was independently associated with lower mortality (HR 0.63, 95% CI 0.45-0.87, P < .01). Survival analysis showed that at long term, patients treated with RASi had lower mortality rates in the overall cohort (log-rank P = .001). However, this benefit was not found among patients treated with RASi in the matched cohort (log-rank P = .168). Potential survival benefit of RASi were present, both in the overall and matched cohort, in 2 subgroups: patients with admission LVEF ≤ 40% (HR 0.54 95% CI 0.38-0.78, P = .001; HR 0.59, 95% CI 0.37-0.95, P = .030) and diabetes (HR 0.41, 95% CI 0.23-0.73, P = .002; HR 0.41, 95% CI 0.21-0.82, P = .011)., Conclusions: Long-term therapy with RASi after a TTS episode was not associated with lower mortality rates at propensity score analysis. However, potential survival benefit can be found among patients with admission LVEF ≤ 40% or diabetes., Competing Interests: Conflict of interest None reported., (Copyright © 2024 Elsevier Inc. All rights reserved.)
Published: 2024
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36. Exercise limitations in amyloid cardiomyopathy assessed by cardiopulmonary exercise testing-A multicentre study.

Author: Willixhofer R, Contini M, Emdin M, Magrì D, Bonomi A, Salvioni E, Celeste F, Del Torto A, Passino C, Capelle CDJ, Arzilli C, Fiori E, Capra N, Kronberger C, Ermolaev N, Kammerlander A, Musumeci B, Vergaro G, Castiglione V, Rettl R, Tini G, Baggiano A, Fabiani I, Sciomer S, Badr Eslam R, and Agostoni P
Abstract: Aims: Amyloid cardiomyopathy is caused by the deposition of light chain (AL) or transthyretin amyloid (ATTR) fibrils, that leads to a restrictive cardiomyopathy, often resulting in heart failure (HF) with preserved or reduced ejection fraction. This study aimed to determine whether cardiac output reduction or ventilation inefficiency plays a predominant role in limiting exercise in patients with amyloid cardiomyopathy., Methods: We conducted a multicentre prospective study in patients with AL or ATTR cardiomyopathy who underwent cardiopulmonary exercise testing across four centres. Patients were compared with a propensity-score matched HF cohort based on age, gender, left ventricular ejection fraction (LVEF), and peak oxygen consumption (VO 2 )., Results: Data from 267 amyloid patients aged 77 (72, 81) years, 86% male, with a median N-terminal pro B-type natriuretic peptide (NT-proBNP) of 2187 (1140, 4383) ng/L, exercise parameters of peak VO 2 of 14.1 (11.6;16.9) mL/min/kg, a minute ventilation to carbon dioxide production (VE/VCO 2 ) slope of 37.4 (32.5, 42.6) and a LVEF of 50% (44%, 59%) were analysed. We identified 251 amyloid cardiomyopathy-HF matches. Amyloid patients had a signifnicantly higher VE/VCO 2 slope [37.4, inter quartile range (IQR): 32.7, 43.1 vs. 32.1, IQR: 28.7, 37.0, P < 0.0001], NT-proBNP (2249, IQR: 1187, 4420 vs. 718, IQR: 405, 2161 ng/L, P < 0.001), peak heart rate (121 ± 28 vs. 115 ± 27 beats/min, P = 0.007) and peak ventilation (51, IQR: 42, 62 vs. 43, IQR: 33, 53 L/min, P < 0.0001) with earlier anaerobic threshold (VO 2 at AT: 8.9, IQR: 6.8, 10.8 vs. 10.8, IQR: 8.9, 12.7 mL/min/kg, P < 0.0001) compared with HF. Between amyloid patients, AL patients (n = 27) were younger (63, IQR: 58, 70 vs. 78, IQR: 72, 81 years, P < 0.0001), had lower VE/VCO 2 slope (35.0, IQR: 30.0, 38.7 vs. 38.0, IQR: 32.8, 43.1, P = 0.019), higher end-tidal carbon dioxide partial pressure both at AT (35.1 ± 4.8 vs. 31.4 ± 4.7 mmHg, P < 0.001) and peak exercise (32, IQR: 28, 35 vs. 30, IQR: 26, 33 mmHg, P = 0.039) as compared with ATTR (n = 233)., Conclusions: A higher VE/VCO 2 slope and an earlier AT, determining functional capacity impairment, was assessed in patients with amyloid cardiomyopathy compared with the matched HF cohort. Additionally, patients with ATTR might display more severe exercise limitations as compared with AL., (© 2024 The Author(s). ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.)
Published: 2024
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37. Clinical characteristics and outcomes of Takotsubo syndrome in patients with chronic obstructive pulmonary disease.

Author: Arcari L, Tini G, Zuccanti M, Camastra G, Cianca A, Belmonte E, Montefusco G, Scirpa R, Malerba C, Lupparelli F, Sclafani M, Maestrini V, Musumeci B, Barbato E, and Cacciotti L
Abstract: Background: takotsubo syndrome (TTS) is an acute heart failure syndrome characterized by a relevant comorbid background, including chronic obstructive pulmonary disease (COPD). However, TTS patients with COPD are still not well characterized., Aim: to describe the clinical characteristics and outcomes of patients with TTS and COPD., Methods: n = 440 TTS patients were dichotomized according to the presence of COPD. Endpoint of the study were in-hospital complications (composite of death, major arrhythmias, cardiogenic shock and acute pulmonary edema), TTS recurrence and long-term mortality at follow-up., Results: mean age of the population was 72±11, 10 % males. COPD prevalence was 16 % (n = 69). On subgroup analysis, patients with COPD were more likely smokers (41 % vs 13 %, p < 0.001), with higher rates of dyspnea and physical triggers at presentation (52 % vs 18 %, p < 0.001 and 52 % vs 32 %, p = 0.001 respectively) and lower left ventricular ejection fraction (36 % vs 39 %, p = 0.035) In-hospital complications were more common in patients with COPD (26 % vs 13 %, p = 0.006), driven by higher rates of acute pulmonary edema (19 % vs 6 %, p < 0.001) and cardiogenic shock (10 % vs 4 %, p = 0.023). At multivariable logistic regression analysis, COPD was independently associated with in-hospital complications occurrence (Odds Ratio 2.10, 95 % CI 1.09-4.05; p = 0.027). At univariable Cox regression analysis COPD was associated with TTS recurrence (Hazard Ratio (HR 9.82, 95 % CI 3.2-30.12; p < 0.001)), at multivariable Cox regression analysis with long-term mortality (HR 2.97, 95 % CI 1.44-6.12; p = 0.003)., Conclusion: COPD marks a vulnerable TTS phenotype including higher risk of in-hospital complications, long-term recurrence and mortality., (Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.)
Published: 2024
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38. Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort.

Author: Caroselli S, Fabiani M, Micolonghi C, Savio C, Tini G, Musumeci B, Pagannone E, Germani A, Libi F, Visco V, Pizzuti A, Autore C, Petrucci S, Rubattu S, and Piane M
Subjects: Humans, Male, Female, Middle Aged, Adult, Cohort Studies, Aged, Italy, Mutation, Introns, Exons, Genetic Testing, Cardiomyopathy, Hypertrophic genetics, Cardiomyopathy, Hypertrophic diagnosis, Carrier Proteins genetics, High-Throughput Nucleotide Sequencing
Abstract: Hypertrophic cardiomyopathy (HCM) is a genetic cardiac muscle disease characterized by clinical and genetic heterogeneity. Genetic testing can reveal the presence of disease-causing variants in genes encoding sarcomere proteins. However, it yields inconclusive or negative results in 40-60% of HCM cases, owing to, among other causes, technical limitations such as the inability to detect pathogenic intronic variants. Therefore, we aimed to increase the diagnostic yield of molecular analysis for HCM by improving the in-silico detection of intronic variants in MYBPC3 that may escape detection by algorithms normally used with tagged diagnostic panels. We included 142 HCM probands with negative results in Illumina TruSight Cardio panel analysis, including exonic regions of 174 cardiomyopathy genes. Raw data were re-analyzed using existing bioinformatics tools. The spliceogenic variant c.1224-80G>A was detected in three patients (2.1%), leading us to reconsider their molecular diagnosis. These patients showed late onset and mild symptoms, although no peculiar phenotypic characteristics were shared. Collectively, rare spliceogenic MYBPC3 variants may play a role in causing HCM, and their systematic detection should be performed to provide more comprehensive solutions in genetic testing using multigenic panels.
Published: 2025
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39. Early diagnosis, disease stage and prognosis in wild-type transthyretin amyloid cardiomyopathy: The DIAMOND study.

Author: Tini G, Musumeci B, Milani P, Zampieri M, Caponetti AG, Fabris F, Foli A, Argirò A, Mazzoni C, Gagliardi C, Longhi S, Saturi G, Vergaro G, Aimo A, De Fazio L, Varrà GG, Serenelli M, Fabbri G, De Michieli L, Palmiero G, Ciliberti G, Carigi S, Zanoletti M, Mandoli GE, Lucchi GR, Rella V, Monti E, Gardini E, Bartolotti M, Crotti L, Merli E, Mussinelli R, Vianello PF, Cameli M, Marzo F, Guerra F, Limongelli G, Cipriani A, Perlini S, Obici L, Perfetto F, Barbato E, Porto I, Sinagra G, Merlo M, Emdin M, Biagini E, Cappelli F, Palladini G, and Canepa M
Abstract: Aims: Disease staging and prognostic scoring in wild-type transthyretin-related cardiac amyloidosis (ATTRwt-CA) can be captured by two systems (NAC and Columbia scores). However, uncertainty remains as epidemiology of the disease is evolving rapidly. We evaluated features associated with staging systems across ATTRwt-CA patients from different diagnostic pathways, and their association with prognosis., Methods: We performed an analysis on DIAMOND patients with available data to evaluate NAC and Columbia score. DIAMOND was a retrospective study from 17 Italian referral centres for CA, enrolling 1281 patients diagnosed between 2016 and 2021, and aimed at describing characteristics of pathways leading to ATTRwt-CA diagnosis. Of the original cohort, 811 patients were included in this analysis. Each patient had NAC and Columbia score calculated. Patients were grouped according to NAC and Columbia scoring classes. We described characteristics of patients according to staging classes and diagnostic pathways at diagnosis. Prevalence of early diagnoses, defined as NAC Ia, NYHA class I, no use of diuretics, no history of heart failure (HF) hospitalizations nor of atrial fibrillation prior to diagnosis, was investigated. Finally, prognostic variables were tested alone and grouped as NAC or Columbia scores in Cox univariate and multivariate regression analyses. Prognosis was investigated as all-cause mortality, in the whole population and dividing patients in HF versus other diagnostic pathways., Results: Only 1% of the study population had an early ATTRwt-CA diagnosis. Distribution of prognostic variables and of NAC and Columbia classes was heterogeneous across diagnostic pathways. The prevalence of NAC III and Columbia III was higher in the HF diagnostic pathway, but all NAC and Columbia classes were present in all pathways. Both NAC and Columbia scores were associated with all-cause mortality at univariate Cox regression analysis in the whole population, in patients from the HF diagnostic pathway and in those from other pathways. At multivariate analysis, Columbia score remained significantly associated with the outcome, together with age at diagnosis, left ventricular ejection fraction and maximal wall thickness., Conclusions: In this contemporary nationwide cohort, an ATTRwt-CA early diagnosis was very rare. Disease staging with NAC and Columbia scoring systems determined classes of patients with heterogeneous features. Both scores were significantly associated with mortality, but other variables also had prognostic significance., (© 2024 The Author(s). ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.)
Published: 2024
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40. Impact of the Noninvasive Diagnostic Algorithm on Clinical Presentation and Prognosis in Cardiac Amyloidosis.

Author: Tini G, Cristiano E, Zampieri M, Ponziani A, Porcari A, Zanoletti M, Mazzoni C, Sclafani M, Saturi G, Lalario A, Labate ME, Autore C, Barbato E, Perfetto F, Biagini E, Sinagra G, Canepa M, Merlo M, Longhi S, Cappelli F, and Musumeci B
Abstract: 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., Competing Interests: The work reported in this publication was funded by the 10.13039/501100003196Italian Ministry of Health, RC-2022-2773270 project. The authors have reported that they have no relationships relevant to the contents of this paper to disclose., (© 2024 The Authors.)
Published: 2024
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41. Evaluation of the 2021 ESC recommendations for family screening in hereditary transthyretin cardiac amyloidosis.

Author: Muller SA, Peiró-Aventin B, Biagioni G, Tini G, Saturi G, Kronberger C, Achten A, Dobner S, Te Rijdt WP, Gasperetti A, Te Riele ASJM, Varrà GG, Ponziani A, Hirsch A, Porcari A, van der Meer MG, Zampieri M, van der Harst P, Kammerlander A, Biagini E, van Tintelen JP, Barbato E, Asselbergs FW, Menale S, Gräni C, Merlo M, Michels M, Knackstedt C, Nitsche C, Longhi S, Musumeci B, Cappelli F, Garcia-Pavia P, and Oerlemans MIFJ
Subjects: Humans, Male, Female, Middle Aged, Aged, Adult, Europe, Echocardiography methods, Electrocardiography, Prealbumin genetics, Genetic Testing methods, Mass Screening methods, Practice Guidelines as Topic, Cardiology, Societies, Medical, Amyloid Neuropathies, Familial diagnosis, Amyloid Neuropathies, Familial genetics, Cardiomyopathies diagnosis, Cardiomyopathies genetics
Abstract: Aims: The 2021 European Society of Cardiology (ESC) screening recommendations for individuals carrying a pathogenic transthyretin amyloidosis variant (ATTRv) are based on expert opinion. We aimed to (i) determine the penetrance of ATTRv cardiomyopathy (ATTRv-CM) at baseline; (ii) examine the value of serial evaluation; and (iii) establish the yield of first-line diagnostic tests (i.e. electrocardiogram, echocardiogram, and laboratory tests) as per 2021 ESC position statement., Methods and Results: We included 159 relatives (median age 55.6 [43.2-65.9] years, 52% male) at risk for ATTRv-CM from 10 centres. The primary endpoint, ATTRv-CM diagnosis, was defined as the presence of (i) cardiac tracer uptake in bone scintigraphy; or (ii) transthyretin-positive cardiac biopsy. The secondary endpoint was a composite of heart failure (New York Heart Association class ≥II) and pacemaker-requiring conduction disorders. At baseline, 40/159 (25%) relatives were diagnosed with ATTRv-CM. Of those, 20 (50%) met the secondary endpoint. Indication to screen (≤10 years prior to predicted disease onset and absence of extracardiac amyloidosis) had an excellent negative predictive value (97%). Other pre-screening predictors for ATTRv-CM were infrequently identified variants and male sex. Importantly, 13% of relatives with ATTRv-CM did not show any signs of cardiac involvement on first-line diagnostic tests. The yield of serial evaluation (n = 41 relatives; follow-up 3.1 [2.2-5.2] years) at 3-year interval was 9.4%., Conclusions: Screening according to the 2021 ESC position statement performs well in daily clinical practice. Clinicians should adhere to repeating bone scintigraphy after 3 years, as progressing to ATTRv-CM without signs of ATTRv-CM on first-line diagnostic tests or symptoms is common., (© 2024 The Author(s). European Journal of Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.)
Published: 2024
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42. Comprehensive Geriatric Assessment to Optimize the Management of Older Patients With Transthyretin Cardiac Amyloidosis.

Author: Fumagalli C, Maurer MS, Fontana M, Fine N, Gillmore J, Goyal P, Nakagawa S, Musumeci B, Grogan M, Marfella R, Limongelli G, Bo M, Longhi S, Cuddy S, Masri A, Olivotto I, Perfetto F, Ungar A, Marchionni N, and Cappelli F
Abstract: Transthyretin cardiac amyloidosis (ATTR-CA) predominantly affects older adults with multiple chronic conditions, leading to significant physical, cognitive, and emotional challenges. New disease-modifying drugs are effective in early stages, prompting a shift toward comprehensive assessments, including functional capacity and quality of life. However, these assessments may not fully capture the complexity of older ATTR-CA patients, especially regarding frailty and mood disorders, which can influence symptom reporting. Thus, integrating comprehensive geriatric assessment tools into routine clinical practice may be crucial to detect early signs of frailty or functional impairment that could impact outcomes and mitigate futility and ageism in the decision-making process. This review highlights the importance of evaluating multimorbidity, disability, and frailty in older patients with ATTR-CA to optimize management strategies., Competing Interests: Dr Maurer is supported by grant from 10.13039/100000002NIH R01HL139671 and R01AG081582-01; grants and personal fees from Alnylam, Pfizer, Eidos, Prothena, and Ionis; and personal fees from AstraZeneca, Akcea, Intellia, and Novo Nordisk. Dr Fontana is supported by a British Heart Foundation Intermediate Clinical Research Fellowship (FS/18/21/33447). Dr Gillmore has received consultancy fees from Alnylam, AstraZeneca, ATTRalus, Bridgebio, Ionis, Intellia, Lycia, and Pfizer. Dr Goyal is supported by 10.13039/100000049National Institute on Aging grants K76AG064428, R21AG077092, R01AG085420, and R24AG064025; and has received consulting fees from Agepha Pharma, Akros Pharma, Axon therapies, and Sensorum Health. Dr Fine has received research support and consulting honoraria from Pfizer, Alnylam, Ionis, AstraZeneca, Novo Nordisk, Sanofi/Genzyme, and Eidos/BridgeBio. Dr Grogan has received research support and or advisory board/consulting fees from Alnylam, BridgeBio/Eidos, Janssen, Pfizer, AstraZeneca, Novo, and Nordisk (all funds paid to employer, no personal compensation). Dr Marfella is supported by Programmi di Ricerca Scientifica di Rilevante Interesse Nazionale (Scientific research programs of high national interest) # 2020LM8WNW. Dr Limongelli has received research support and or advisory board/consulting fees from Alnylam, Pfizer, and AstraZeneca. Dr Longhi is supported by the Italian Ministry of Health, RC-2022-2773270 project. Dr Cuddy is supported by grant support from 10.13039/100000002NIH 1K23HL166686-01 and 10.13039/100000967AHA 23CDA857664; and has received personal fees from Pfizer, Bridgebio, Ionis, AstraZeneca, and Novo Nordisk. Dr Masri is supported by Research Grants from 10.13039/100004319Pfizer, Ionis, Attralus, and 10.13039/100014941Cytokinetics; and has received fees from Cytokinetics, BMS, Eidos, Pfizer, Ionis, Lexicon, Attralus, Haya, BioMarin, Alexion, and Tenaya. Dr Olivotto is supported by grants for “Respect,” “StratifyHF,” and “SmashHCM” and has received grants from 10.13039/100015340Bayer, 10.13039/100016619MyoKardia, Inc, which is a wholly owned subsidiary of Bristol Myers Squibb, Sanofi Genzyme, and Shire, which is now part of Takeda; personal fees from Bayer, Sanofi Genzyme, and Shire/Takeda; and payments as a consultant from MyoKardia, Inc. Dr Perfetto has received honoraria for advisory board participation from Pfizer, Alnylam, and Akcea. Dr Ungar is supported by Piano Nazionale di Ripresa e Resilienza grants. Dr Cappelli has received consultant fees from Pfizer, Alnylam, AstraZeneca, BridgeBio, Daiichi Sankyo, and Novo Nordisk. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose., (© 2024 The Authors.)
Published: 2024
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43. SGLT2 Inhibitor Therapy in Patients With Transthyretin Amyloid Cardiomyopathy.

Author: Porcari A, Cappelli F, Nitsche C, Tomasoni D, Sinigiani G, Longhi S, Bordignon L, Masri A, Serenelli M, Urey M, Musumeci B, Cipriani A, Canepa M, Badr-Eslam R, Kronberger C, Chimenti C, Zampieri M, Allegro V, Razvi Y, Patel R, Ioannou A, Rauf MU, Petrie A, Whelan C, Emdin M, Metra M, Merlo M, Sinagra G, Hawkins PN, Solomon SD, Gillmore JD, and Fontana M
Subjects: Humans, Male, Female, Aged, Amyloid Neuropathies, Familial drug therapy, Amyloid Neuropathies, Familial complications, Cardiomyopathies drug therapy, Retrospective Studies, Treatment Outcome, Sodium-Glucose Transporter 2 Inhibitors therapeutic use
Abstract: Background: Transthyretin cardiomyopathy (ATTR-CM) was an exclusion criterion in randomized clinical trials of sodium-glucose cotransporter 2 inhibitors (SGLT2i)., Objectives: This study sought to assess the effectiveness and tolerability of SGLT2i in patients with ATTR-CM., Methods: Data of 2,356 consecutive ATTR-CM patients (2014-2022) were analyzed: 260 (11%) received SGLT2i. After comparing the groups according to the treatment, 14 variables were significantly different-age and N-terminal pro-B-type natriuretic peptide were included in the model. A propensity score reflecting the likelihood of being treated with SGLT2i for each patient was determined using 16 variables., Results: The study comprised 220 patients treated with SGLT2i (age 77 ± 2 years; 82.3% wild-type ATTR-CM; left ventricular ejection fraction 45.8% ± 11%) and 220 propensity-matched control individuals. Adequacy of matching was verified (standardized differences: <0.10 between groups). Discontinuation rate for SGLT2i was 4.5%; at 12 months, SGLT2i treatment was associated with less worsening of NYHA functional class, N-terminal pro-B-type natriuretic peptide, estimated glomerular filtration rate, and fewer new initiations of loop diuretic agent therapy. Over 28 months (Q1-Q3: 18-45 months), SGLT2i therapy was associated with lower all-cause mortality (HR: 0.57; 95% CI: 0.37-0.89; P = 0.010), cardiovascular mortality (HR: 0.41; 95% CI: 0.24-0.71; P < 0.001), heart failure (HF) hospitalization (HR: 0.57; 95% CI: 0.36-0.91; P = 0.014), and the composite outcome of cardiovascular mortality and HF hospitalization (HR: 0.57; 95% CI: 0.38-0.84; P = 0.003)., Conclusions: SGLT2i treatment in ATTR-CM patients was well tolerated and associated with favorable effects on HF symptoms, renal function, and diuretic agent requirement over time. SGLT2i treatment was associated with reduced risk of HF hospitalization and cardiovascular and all-cause mortality, regardless of the ejection fraction, despite the effect size being likely overestimated. In the absence of randomized trials, these data may inform clinicians regarding the use of SGLT2i in patients with ATTR-CM., Competing Interests: Funding Support and Author Disclosures Dr Fontana is supported by a British Heart Foundation Intermediate Clinical Research Fellowship (FS/18/21/33447). Dr Cappelli has received consulting income from Pfizer, Alnylam, Astra Zeneca, Novo Nordisk, and BridgeBio. Dr Urey has received consulting income from Pfizer, BridgeBio, AstraZeneca, Ionis, and Alnylam. Dr Hawkins has received consulting income from Alnylam. Dr Gillmore has received consulting income from Ionis, Alexion, Eidos, Intellia, Alnylam, and Pfizer. Dr Fontana has received consulting income from Intellia, Novo Nordisk, Pfizer, Eidos, Prothena, Alnylam, Alexion, Janssen, AstraZeneca, Attralus, Lexeo, and Ionis. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)
Published: 2024
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44. Guideline-Directed Medical Therapy in Patients With Heart Failure With Reduced Ejection Fraction and Incident Cancer.

Author: Tini G, Tanda S, Toma M, Battistoni A, Musumeci B, Barbato E, Canepa M, and Ameri P
Subjects: Humans, Retrospective Studies, Male, Female, Aged, Italy epidemiology, Incidence, Practice Guidelines as Topic, Middle Aged, Follow-Up Studies, Ventricular Function, Left physiology, Ventricular Function, Left drug effects, Mineralocorticoid Receptor Antagonists therapeutic use, Mineralocorticoid Receptor Antagonists administration & dosage, Adrenergic beta-Antagonists therapeutic use, Adrenergic beta-Antagonists administration & dosage, Angiotensin-Converting Enzyme Inhibitors therapeutic use, Heart Failure drug therapy, Heart Failure physiopathology, Stroke Volume physiology, Neoplasms drug therapy, Neoplasms complications
Abstract: Background: It has been postulated that cancer hampers the delivery of guideline-directed medical therapy (GDMT) for heart failure (HF). However, few data are available in this regard., Methods: We performed a retrospective analysis from the HF Outpatient Clinic of the IRCCS Ospedale Policlinico San Martino in Genova, Italy. All HF patients evaluated between 2010 and 2019, with a left ventricular ejection fraction <50% and at least two visits ≥3 months apart with complete information about GDMT were included in the study. We assessed the prescription of GDMT-in particular, beta-blockers (BB), renin-angiotensin system inhibitors (RASi), and mineralocorticoid antagonists (MRA)-at the time of the last HF evaluation and compared it between patients with and without incidental cancer. For those with incidental cancer, we also evaluated modifications of GDMT comparing the HF evaluations before and after cancer diagnosis., Results: Of 464 HF patients, 39 (8%) had incidental cancer. There were no statistical differences in GDMT between patients with and without incidental cancer at last evaluation. In the year following cancer diagnosis, of 33 patients with incidental cancer on BB, none stopped therapy, but two had a down-titration to a dosage <50%; of 27 patients on RASi, two patients stopped therapy and three had a down-titration to a dosage <50%; of 19 patients on MRA, four stopped therapy., Conclusions: Although HF patients with incidental cancer may need to have GDMT down-titrated at the time of cancer diagnosis, this does not appear to significantly hinder the delivery of HF therapies during follow-up., Competing Interests: Conflicts of Interest PA received speaker and/or advisor fees from AstraZeneca, Boehringer Ingelheim, Bayer, Daiichi-Sankyo, Janssen, Merck Sharp & Dohme, all outside the submitted work. The other authors have no conflicts of interest to disclose., (Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.)
Published: 2024
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45. Clinical characteristics and outcome of end stage hypertrophic cardiomyopathy: Role of age and heart failure phenotypes.

Author: Musumeci B, Tini G, Biagini E, Merlo M, Calore C, Ammirati E, Zampieri M, Russo D, Grilli G, Santolamazza C, Vio R, Rubino M, Ditaranto R, Del Franco A, Sormani P, Parisi V, Monda E, Francia P, Cipriani A, Limongelli G, Sinagra G, Olivotto I, Boni L, and Autore C
Subjects: Female, Humans, Retrospective Studies, Disease Progression, Phenotype, Heart Failure diagnosis, Heart Failure etiology, Cardiomyopathy, Hypertrophic diagnostic imaging
Abstract: Background: A minority of patients with hypertrophic cardiomyopathy (HCM) presents advanced heart failure (HF) during their clinical course, in the context of left ventricular (LV) remodeling with reduced LV ejection fraction (LVEF), or of severe diastolic dysfunction without impaired LVEF. Aim of this study was to describe a multicentric end stage (ES) HCM population and analyze clinical course and outcome among its different phenotypes., Methods: Data of all HCM patients from 7 Italian referral centres were retrospectively evaluated. ES was diagnosed in presence of: LVEF <50% (ES-rEF) or NYHA functional class ≥II with severe diastolic dysfunction (ES-pEF). Outcomes were: HCM-related and all-cause mortality; combined arrhythmic events; advanced HF treatments., Results: Study population included 331 ES patients; 87% presented ES-rEF and 13% ES-pEF. At ES recognition, patients with ES-pEF were more commonly females, had more frequently NYHA III/IV, atrial fibrillation and greater maximal LV wall thickness. Over a median follow-up of 5.6 years, 83 (25%) patients died, 46 (15%) experienced arrhythmic events and (26%) 85 received advanced HF treatments. Incidence of HCM-related and all-cause mortality, and of combined arrhythmic events did not differ in ES-pEF and ES-rEF patients, but ES-pEF patients were less likely to receive advanced HF treatments. Older age at ES recognition was an independent predictor of increased HCM-related mortality (p = 0.01) and reduced access to advanced HF treatments (p < 0.0001)., Conclusions: Two different HCM-ES phenotypes can be recognized, with ES-pEF showing distinctive features at ES recognition and receiving less frequently advanced HF treatments. Older age at ES recognition has a major impact on outcomes., Competing Interests: Declaration of competing interest All Authors report no conflicts of interest related to the present work. All authors take responsibility for all aspects of the reliability and freedom from bias of the data presented and their discussed interpretation., (Copyright © 2024 Elsevier B.V. All rights reserved.)
Published: 2024
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46. Age-Related Differences in Takotsubo Syndrome: Results From the Multicenter GEIST Registry.

Author: El-Battrawy I, Santoro F, Núñez-Gil IJ, Pätz T, Arcari L, Abumayyaleh M, Guerra F, Novo G, Musumeci B, Cacciotti L, Mariano E, Caldarola P, Parisi G, Montisci R, Vitale E, Volpe M, Corbì-Pasqual M, Martinez-Selles M, Almendro-Delia M, Sionis A, Uribarri A, Thiele H, Brunetti ND, Eitel I, Akin I, and Stiermaier T
Subjects: Female, Humans, Male, Hospital Mortality, Prognosis, Registries, Multicenter Studies as Topic, Adult, Middle Aged, Aged, Takotsubo Cardiomyopathy diagnosis, Takotsubo Cardiomyopathy epidemiology, Takotsubo Cardiomyopathy complications
Abstract: Background: The role of age in the short- and long-term prognosis of takotsubo syndrome (TTS) is controversial. The aim of the present study was to evaluate age-related differences and prognostic implications among patients with TTS., Methods and Results: In total, 2492 consecutive patients with TTS enrolled in an international registry were stratified into 4 groups (<45, 45-64, 65-74, and ≥75 years). The median long-term follow-up was 480 days (interquartile range, 83-1510 days). The primary outcome was all-cause mortality (in-hospital and out-of-hospital mortality). The secondary end point was TTS-related in-hospital complications. Among the 2479 patients, 58 (2.3%) were aged <45 years, 625 (25.1%) were aged 45 to 64 years, 733 (29.4%) were aged 65 to 74 years, and 1063 (42.6%) were aged ≥75 years. Young patients (<45 years) had a higher prevalence of men (from youngest to oldest, 24.1% versus 12.6% versus 9.7% versus 11.4%; P <0.01), physical triggers (46.6% versus 27.5%, 33.9%, and 38.4%; P <0.01), and non-apical forms of TTS (25.9% versus 23.7%, 12.7%, and 9%; P <0.01) than those aged 45 to 64, 65 to 74, and ≥75 years. During hospitalization, young patients experienced a higher rate of in-hospital complications (32.8% versus 23.4%, 27.4%, and 31.9%; P =0.01), but in-hospital mortality was higher in the older group (0%, 1.6%, 2.9%, and 5%; P =0.001). Long-term all-cause mortality was significantly higher in the older cohort (5.6%, 6.4%, 11.3%, and 22.3%; log-rank P <0.001), as was long-term cardiovascular mortality (0%, 0.9%, 1.9%, and 3.2%; log-rank P =0.01)., Conclusions: Young patients with TTS have a typical phenotype characterized by a higher prevalence of male sex, non-apical ballooning patterns, and in-hospital complications. However, in-hospital and long-term mortality are significantly lower in young patients with TTS., Registration: URL: https://classic.clinicaltrials.gov/ct2/show/NCT04361994. Unique identifier: NCT04361994.
Published: 2024
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47. Neurological Disorders in Takotsubo Syndrome: Clinical Phenotypes and Outcomes.

Author: Santoro F, Núñez Gil IJ, Arcari L, Vitale E, Martino T, El-Battrawy I, Guerra F, Novo G, Mariano E, Musumeci B, Cacciotti L, Caldarola P, Montisci R, Ragnatela I, Cetera R, Vedia O, Blanco E, Pais JL, Martin A, Pérez-Castellanos A, Salamanca J, Bartolomucci F, Akin I, Thiele H, Eitel I, Stiermaier T, and Brunetti ND
Subjects: Humans, Hospital Mortality, Prognosis, Phenotype, Takotsubo Cardiomyopathy complications, Takotsubo Cardiomyopathy diagnosis, Takotsubo Cardiomyopathy epidemiology, Neurodegenerative Diseases complications, Migraine Disorders complications, Migraine Disorders diagnosis, Migraine Disorders epidemiology
Abstract: Background: Neurological disorders as a risk factor for Takotsubo syndrome (TTS) are not well characterized. The aim of the study was to evaluate TTS-associated neurological phenotypes and outcome., Methods and Results: Patients with TTS enrolled in the international multicenter GEIST (German Italian Spanish Takotsubo) registry were analyzed. Prevalence, clinical characteristics, and short- and long-term outcomes of patients with TTS were recorded. A subgroup analysis of the 5 most represented neurological disorders was performed. In total, 400 (17%) of 2301 patients had neurological disorders. The most represented neurological conditions were previous cerebrovascular events (39%), followed by neurodegenerative disorders (30.7%), migraine (10%), epilepsy (9.5%), and brain tumors (5%). During hospitalization, patients with neurological disorders had longer in-hospital stay (8 [interquartile range, 5-12] versus 6 [interquartile range, 5-9] days; P <0.01) and more often experienced in-hospital complications (27% versus 16%; P =0.01) mainly driven by cardiogenic shock and in-hospital death (12% versus 7.6% and 6.5% versus 2.8%, respectively; both P <0.01). Survival analysis showed a higher mortality rate in neurological patients both at 60 days and long-term (8.8% versus 3.4% and 23.5% versus 10.1%, respectively; both P <0.01). Neurological disorder was an independent predictor of both the 60-day and long-term mortality rate (odds ratio, 1.78 [95% CI, 1.07-2.97]; P =0.02; hazard ratio, 1.72 [95% CI, 1.33-2.22]; both P <0.001). Patients with neurodegenerative disorders had the worst prognosis among the neurological disease subgroups, whereas patients with TTS with migraine had a favorable prognosis (long-term mortality rates, 29.2% and 9.7%, respectively)., Conclusions: Neurological disorders identify a high-risk TTS subgroup for enhanced short- and long-term mortality rate. Careful recognition of neurological disorders and phenotype is therefore needed.
Published: 2024
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48. Statin therapy and outcome in Takotsubo syndrome patients: Results from the multicenter international GEIST registry.

Author: Novo G, Arcari L, Stiermaier T, Alaimo C, El-Battrawy I, Cacciotti L, Guerra F, Musumeci B, Mariano E, Parisi G, Montisci R, Vazirani R, Perez Castellanos A, Uribarri A, Corbi-Pascual M, Salamanca J, Akin I, Thiele H, Brunetti ND, Eitel I, Núñez Gil IJ, and Santoro F
Subjects: Humans, Male, Middle Aged, Aged, Aged, 80 and over, Prognosis, Registries, Takotsubo Cardiomyopathy drug therapy, Hydroxymethylglutaryl-CoA Reductase Inhibitors therapeutic use, Diabetes Mellitus
Abstract: Background and Aims: Several studies have shown that endothelial dysfunction plays a role in the pathogenesis of Takotsubo syndrome (TTS). Given the potential benefit of statin therapy on endothelial dysfunction, we hypothesized that such treatment could improve outcome. Aim of our study was to evaluate clinical characteristics and outcome of TTS patients treated with statin therapy., Methods: Patients were enrolled in the international multicenter GEIST (GErman Italian Spanish Takotsubo) registry. Demographic data, clinical features and drug therapy at discharge were recorded. Primary study outcome was the occurrence of all-cause death at follow-up., Results: Study population included 2429 consecutive TTS patients: 1293 (53.2%) discharged on statin and 1136 (46.8%) without statin. Patients with statin were older (age 72 ± 11 vs 69 ± 13 years, p < 0.001), with higher prevalence of hypertension (74.3% vs 60.3%, p < 0.001), diabetes (21.1% vs 14.7%, p < 0.001), dyslipidemia (56.1% vs 23.3%, p < 0.001), history of coronary artery disease (13.3% vs 6.3%, p < 0.001) and lower rates of in-hospital complications (14.7% vs 19.3%, p = 0.003). Survival analysis showed similar mortality rates between groups (log rank p = 0.803). At univariable analysis, statin therapy at discharge was not associated with lower mortality (HR: 0.97, 95% CI 0.74-1.26, p = 0.803). At multivariable analysis age (HR: 1.06 95% CI 1.04-1.08, p < 0.001), male sex (HR: 1.83, 95% CI 1.20-2.80, p = 0.005), diabetes (HR: 2.55, 95% CI 1.83-3.54 p < 0.001), malignancies (HR: 2.41, 95% CI 1.68-3.44, p < 0.001) and physical trigger (HR: 2.24, 95% CI 1.62-3.10, p < 0.001) were associated with increased mortality., Conclusions: Statin therapy after a TTS event was not associated with better prognosis at follow-up., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.)
Published: 2024
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49. A contemporary update on cancer and takotsubo syndrome.

Author: Tini G, Arcari L, Mistrulli R, Follesa F, Cianca A, Sclafani M, Tocci G, Spallarossa P, Battistoni A, Cacciotti L, Musumeci B, and Barbato E
Abstract: Takotsubo syndrome (TTS) is characterized by a transient left ventricular systolic dysfunction, burdened by significant acute and long-term mortality and morbidity. The prognosis of TTS, especially in the long-term, is influenced by both non-cardiovascular (non-CV) and CV comorbidities, among which cancer is one of the most common. The presence of a malignancy is proven to be associated with higher mortality in TTS. Moreover, a number of anticancer treatments has been reported to possibly cause TTS as a form of cardiotoxicity, even though clearcut associations are lacking. The aim of this narrative review is to sum up contemporary knowledge on the association of cancer and TTS, addressing unmet needs and practical implications. The importance of a close collaboration between cardiologists and oncologists is herein highlighted, both to allow an adequate management of the acute TTS phase, and to actively and safely return to the oncologic management once the acute setting is resolved., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision., (© 2024 Tini, Arcari, Mistrulli, Follesa, Cianca, Sclafani, Tocci, Spallarossa, Battistoni, Cacciotti, Musumeci and Barbato.)
Published: 2024
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50. Real-world candidacy to mavacamten in a contemporary hypertrophic obstructive cardiomyopathy population.

Author: Bertero E, Chiti C, Schiavo MA, Tini G, Costa P, Todiere G, Mabritto B, Dei LL, Giannattasio A, Mariani D, Lofiego C, Santolamazza C, Monda E, Quarta G, Barbisan D, Mandoli GE, Mapelli M, Sguazzotti M, Negri F, De Vecchi S, Ciabatti M, Tomasoni D, Mazzanti A, Marzo F, de Gregorio C, Raineri C, Vianello PF, Marchi A, Biagioni G, Insinna E, Parisi V, Ditaranto R, Barison A, Giammarresi A, De Ferrari GM, Priori S, Metra M, Pieroni M, Patti G, Imazio M, Perugini E, Agostoni P, Cameli M, Merlo M, Sinagra G, Senni M, Limongelli G, Ammirati E, Vagnarelli F, Crotti L, Badano L, Calore C, Gabrielli D, Re F, Musumeci G, Emdin M, Barbato E, Musumeci B, Autore C, Biagini E, Porto I, Olivotto I, and Canepa M
Subjects: Humans, Stroke Volume, Ventricular Function, Left, Benzylamines, Cardiomyopathy, Hypertrophic drug therapy, Heart Failure, Uracil analogs & derivatives
Abstract: Aims: In the EXPLORER-HCM trial, mavacamten reduced left ventricular outflow tract obstruction (LVOTO) and improved functional capacity of symptomatic hypertrophic obstructive cardiomyopathy (HOCM) patients. We sought to define the potential use of mavacamten by comparing real-world HOCM patients with those enrolled in EXPLORER-HCM and assessing their eligibility to treatment., Methods and Results: We collected information on HOCM patients followed up at 25 Italian HCM outpatient clinics and with significant LVOTO (i.e. gradient ≥30 mmHg at rest or ≥50 mmHg after Valsalva manoeuvre or exercise) despite pharmacological or non-pharmacological therapy. Pharmacological or non-pharmacological therapy resolved LVOTO in 1044 (61.2%) of the 1706 HOCM patients under active follow-up, whereas 662 patients (38.8%) had persistent LVOTO. Compared to the EXPLORER-HCM trial population, these real-world HOCM patients were older (62.1 ± 14.3 vs. 58.5 ± 12.2 years, p = 0.02), had a lower body mass index (26.8 ± 5.3 vs. 29.7 ± 4.9 kg/m 2 , p < 0.0001) and a more frequent history of atrial fibrillation (21.5% vs. 9.8%, p = 0.027). At echocardiography, they had lower left ventricular ejection fraction (LVEF, 66 ± 7% vs. 74 ± 6%, p < 0.0001), higher left ventricular outflow tract gradients at rest (60 ± 27 vs. 52 ± 29 mmHg, p = 0.003), and larger left atrial volume index (49 ± 16 vs. 40 ± 12 ml/m 2 , p < 0.0001). Overall, 324 (48.9%) would have been eligible for enrolment in the EXPLORER-HCM trial and 339 (51.2%) for treatment with mavacamten according to European guidelines., Conclusions: Real-world HOCM patients differ from the EXPLORER-HCM population for their older age, lower LVEF and larger atrial volume, potentially reflecting a more advanced stage of the disease. About half of real-world HOCM patients were found eligible to mavacamten., (© 2023 The Authors. European Journal of Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.)
Published: 2024
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