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239 results on '"Lorenzini, Massimiliano"'

1. Microstructural and Microvascular Phenotype of Sarcomere Mutation Carriers and Overt Hypertrophic Cardiomyopathy

Author

Joy, George, Kelly, Christopher I., Webber, Matthew, Pierce, Iain, Teh, Irvin, McGrath, Louise, Velazquez, Paula, Hughes, Rebecca K., Kotwal, Huafrin, Das, Arka, Chan, Fiona, Bakalakos, Athanasios, Lorenzini, Massimiliano, Savvatis, Konstantinos, Mohiddin, Saidi A., Macfarlane, Peter W., Orini, Michele, Manisty, Charlotte, Kellman, Peter, Davies, Rhodri H., Lambiase, Pier D., Nguyen, Christopher, Schneider, Jurgen E., Tome, Maite, Captur, Gabriella, Dall’Armellina, Erica, Moon, James C., and Lopes, Luis R.

Published
2023
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3. Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants

Author

Cannie, Douglas E., primary, Protonotarios, Alexandros, additional, Bakalakos, Athanasios, additional, Syrris, Petros, additional, Lorenzini, Massimiliano, additional, De Stavola, Bianca, additional, Bjerregaard, Louise, additional, Dybro, Anne M., additional, Hey, Thomas M., additional, Hansen, Frederikke G., additional, Navarro Peñalver, Marina, additional, Crespo-Leiro, Maria G., additional, Larrañaga-Moreira, Jose M., additional, de Frutos, Fernando, additional, Johnson, Renee, additional, Slater, Thomas A., additional, Monserrat, Lorenzo, additional, Sengupta, Anshuman, additional, Mestroni, Luisa, additional, Taylor, Matthew R.G., additional, Sinagra, Gianfranco, additional, Bilinska, Zofia, additional, Solla-Ruiz, Itziar, additional, Arana Achaga, Xabier, additional, Barriales-Villa, Roberto, additional, Garcia-Pavia, Pablo, additional, Gimeno, Juan R., additional, Dal Ferro, Matteo, additional, Merlo, Marco, additional, Wahbi, Karim, additional, Fatkin, Diane, additional, Mogensen, Jens, additional, Rasmussen, Torsten B., additional, and Elliott, Perry M., additional

Published
2023
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5. Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene

Author

Akhtar, Mohammed Majid, Lorenzini, Massimiliano, Cicerchia, Marcos, Ochoa, Juan Pablo, Hey, Thomas Morris, Sabater Molina, Maria, Restrepo-Cordoba, Maria Alejandra, Dal Ferro, Matteo, Stolfo, Davide, Johnson, Renee, Larrañaga-Moreira, José M., Robles-Mezcua, Ainhoa, Rodriguez-Palomares, Jose F., Casas, Guillem, Peña-Peña, Maria Luisa, Lopes, Luis Rocha, Gallego-Delgado, Maria, Franaszczyk, Maria, Laucey, Gemma, Rangel-Sousa, Diego, Basurte, Mayte, Palomino-Doza, Julian, Villacorta, Eduardo, Bilinska, Zofia, Limeres Freire, Javier, Garcia Pinilla, José M., Barriales-Villa, Roberto, Fatkin, Diane, Sinagra, Gianfranco, Garcia-Pavia, Pablo, Gimeno, Juan R., Mogensen, Jens, Monserrat, Lorenzo, and Elliott, Perry M.

Published
2020
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10. Risks of ventricular arrhythmia and heart failure in carriers of RBM20 variants

Author

Cannie, Douglas E., Protonotarios, Alexandros, Bakalakos, Athanasios, Syrris, Petros, Lorenzini, Massimiliano, De Stavola, Bianca, Bjerregaard, Louise, Dybro, Anne M., Hey, Thomas M., Hansen, Frederikke G., Navarro Peñalver, Marina, Crespo-Leiro, María Generosa, Larrañaga-Moreira, José M., Frutos, Fernando de, Johnson, Renee, Slater, Thomas A., Monserrat, Lorenzo, Sengupta, Anshuman, Mestroni, Luisa, Taylor, Matthew R.G., Sinagra, Gianfranco, Bilinska, Zofia, Solla-Ruiz, Itziar, Arana Achaga, Xabier, Barriales-Villa, Roberto, García-Pavia, Pablo, Gimeno, Juan R., Dal Ferro, Matteo, Merlo, Marco, Wahbi, Karim, Fatkin, Diane, Mogensen, Jens, Rasmussen, Torsten B., Elliott, Perry M., Cannie, Douglas E., Protonotarios, Alexandros, Bakalakos, Athanasios, Syrris, Petros, Lorenzini, Massimiliano, De Stavola, Bianca, Bjerregaard, Louise, Dybro, Anne M., Hey, Thomas M., Hansen, Frederikke G., Navarro Peñalver, Marina, Crespo-Leiro, María Generosa, Larrañaga-Moreira, José M., Frutos, Fernando de, Johnson, Renee, Slater, Thomas A., Monserrat, Lorenzo, Sengupta, Anshuman, Mestroni, Luisa, Taylor, Matthew R.G., Sinagra, Gianfranco, Bilinska, Zofia, Solla-Ruiz, Itziar, Arana Achaga, Xabier, Barriales-Villa, Roberto, García-Pavia, Pablo, Gimeno, Juan R., Dal Ferro, Matteo, Merlo, Marco, Wahbi, Karim, Fatkin, Diane, Mogensen, Jens, Rasmussen, Torsten B., and Elliott, Perry M.

Abstract

[Abstract] Background: Variants in RBM20 are reported in 2% to 6% of familial cases of dilated cardiomyopathy and may be associated with fatal ventricular arrhythmia and rapid heart failure progression. We sought to determine the risk of adverse events in RBM20 variant carriers and the impact of sex on outcomes. Methods: Consecutive probands and relatives carrying RBM20 variants were retrospectively recruited from 12 cardiomyopathy units. The primary end point was a composite of malignant ventricular arrhythmia (MVA) and end-stage heart failure (ESHF). MVA and ESHF end points were also analyzed separately and men and women compared. Left ventricular ejection fraction (LVEF) contemporary to MVA was examined. RBM20 variant carriers with left ventricular systolic dysfunction (RBM20LVSD) were compared with variant-elusive patients with idiopathic left ventricular systolic dysfunction. Results: Longitudinal follow-up data were available for 143 RBM20 variant carriers (71 men; median age, 35.5 years); 7 of 143 had an MVA event at baseline. Thirty of 136 without baseline MVA (22.0%) reached the primary end point, and 16 of 136 (11.8%) had new MVA with no significant difference between men and women (log-rank P=0.07 and P=0.98, respectively). Twenty of 143 (14.0%) developed ESHF (17 men and 3 women; log-rank P<0.001). Four of 10 variant carriers with available LVEF contemporary to MVA had an LVEF >35%. At 5 years, 15 of 67 (22.4%) RBM20LVSD versus 7 of 197 (3.6%) patients with idiopathic left ventricular systolic dysfunction had reached the primary end point (log-rank P<0.001). RBM20 variant carriage conferred a 6.0-fold increase in risk of the primary end point. Conclusions: RBM20 variants are associated with a high risk of MVA and ESHF compared with idiopathic left ventricular systolic dysfunction. The risk of MVA in male and female RBM20 variant carriers is similar, but male sex is strongly associated with ESHF.

Published
2023

11. Usefulness of Electrocardiographic Patterns at Presentation to Predict Long-term Risk of Cardiac Death in Patients With Hypertrophic Cardiomyopathy

Author

Biagini, Elena, Pazzi, Chiara, Olivotto, Iacopo, Musumeci, Beatrice, Limongelli, Giuseppe, Boriani, Giuseppe, Pacileo, Giuseppe, Mastromarino, Vittoria, Bacchi Reggiani, Maria Letizia, Lorenzini, Massimiliano, Lai, Francesco, Berardini, Alessandra, Mingardi, Francesca, Rosmini, Stefania, Resciniti, Elvira, Borghi, Claudia, Autore, Camillo, Cecchi, Franco, and Rapezzi, Claudio

Published
2016
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22. Acute heart failure in patients with acute aortic syndrome: pathophysiology and clinical–prognostic implications

Author

Vagnarelli, Fabio, Corsini, Anna, Lorenzini, Massimiliano, Pacini, Davide, Ferlito, Marinella, Bacchi Reggiani, Letizia, Longhi, Simone, Nanni, Samuele, Norscini, Giulia, Cinti, Laura, Bugani, Giulia, Pasquale, Ferdinando, Biagini, Elena, Grigioni, Francesco, Di Bartolomeo, Roberto, Marini, Marco, Perna, Gian Piero, Melandri, Giovanni, and Rapezzi, Claudio

Published
2015
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24. Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

Author

Lopes, Luis R, primary, Garcia-Hernández, Soledad, additional, Lorenzini, Massimiliano, additional, Futema, Marta, additional, Chumakova, Olga, additional, Zateyshchikov, Dmitry, additional, Isidoro-Garcia, Maria, additional, Villacorta, Eduardo, additional, Escobar-Lopez, Luis, additional, Garcia-Pavia, Pablo, additional, Bilbao, Raquel, additional, Dobarro, David, additional, Sandin-Fuentes, Maria, additional, Catalli, Claudio, additional, Gener Querol, Blanca, additional, Mezcua, Ainhoa, additional, Garcia Pinilla, Jose, additional, Bloch Rasmussen, Torsten, additional, Ferreira-Aguar, Ana, additional, Revilla-Martí, Pablo, additional, Basurte Elorz, Maria Teresa, additional, Bautista Paves, Alicia, additional, Ramon Gimeno, Juan, additional, Figueroa, Ana Virginia, additional, Franco-Gutierrez, Raul, additional, Fuentes-Cañamero, Maria Eugenia, additional, Martinez Moreno, Marina, additional, Ortiz-Genga, Martin, additional, Piqueras-Flores, Jesus, additional, Analia Ramos, Karina, additional, Rudzitis, Ainars, additional, Ruiz-Guerrero, Luis, additional, Stein, Ricardo, additional, Triguero-Bocharán, Mayte, additional, de la Higuera, Luis, additional, Ochoa, Juan Pablo, additional, Abu-Bonsrah, Dad, additional, Kwok, Cecilia Y T, additional, Smith, Jacob B, additional, Porrello, Enzo R, additional, Akhtar, Mohammed M, additional, Jager, Joanna, additional, Ashworth, Michael, additional, Syrris, Petros, additional, Elliott, David A, additional, Monserrat, Lorenzo, additional, and Elliott, Perry M, additional

Published
2021
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25. ESC EORP Cardiomyopathy Registry: real‐life practice of genetic counselling and testing in adult cardiomyopathy patients

Author

Helio, Tiina, Elliott, Perry, Koskenvuo, Juha W., Gimeno, Juan R., Tavazzi, Luigi, Tendera, Michal, Kaski, Juan Pablo, Mansencal, Nicolas, Bilinska, Zofia, Carr-White, Gerry, Damy, Thibaud, Frustaci, Andrea, Kindermann, Ingrid, Ripoll-Vera, Tomas, Celutkiene, Jelena, Axelsson, Anna, Lorenzini, Massimiliano, Saad, Aly, Maggioni, Aldo P., Laroche, Cecile, Caforio, Alida L. P., Charron, Philippe, EORP Cardiomyopathy Registry Inves, University of Helsinki, University College of London [London] (UCL), Silesian Medical University, Katowice, Poland, Great Ormond Street Hospital for Children [London] (GOSH), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Cardinal Stefan Wyszyński University, CHU Henri Mondor, Universität des Saarlandes [Saarbrücken], Vilnius University [Vilnius], IT University of Copenhagen, Zagazig University, Universita degli Studi di Padova, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases [IHU ICAN], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), HUS Heart and Lung Center, Department of Medicine, Kardiologian yksikkö, and Helsinki University Hospital Area

Subjects
Adult, medicine.medical_specialty, Registry, Genetic testing, Cardiomyopathy, Disease-causing variant, Genetic counseling, Disease‐causing variant, [SDV]Life Sciences [q-bio], Genetic Counseling, 030204 cardiovascular system & hematology, DIAGNOSIS, GUIDELINES, Right ventricular cardiomyopathy, Sudden cardiac death, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Diseases of the circulatory (Cardiovascular) system, cardiomyopathy, disease-causing variant, genetic counselling, genetic testing, mutation, registry, 030212 general & internal medicine, Prospective Studies, Registries, POSITION STATEMENT, Genetic counselling, medicine.diagnostic_test, HYPERTROPHIC CARDIOMYOPATHY, business.industry, Mutation, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, WORKING GROUP, Dilated cardiomyopathy, medicine.disease, DILATED CARDIOMYOPATHY, EUROPEAN-SOCIETY, 3. Good health, Europe, 3121 General medicine, internal medicine and other clinical medicine, RC666-701, Cardiology and Cardiovascular Medicine, business, Cardiomyopathies
Abstract

Aims Cardiomyopathies comprise a heterogeneous group of diseases, often of genetic origin. We assessed the current practice of genetic counselling and testing in the prospective European Society of Cardiology EURObservational Research Programme Cardiomyopathy Registry. Methods and results A total of 3208 adult patients from 69 centres in 18 countries were enrolled. Genetic counselling was performed in 60.8% of all patients [75.4% in hypertrophic cardiomyopathy (HCM), 39.2% in dilated cardiomyopathy (DCM), 70.8% in arrhythmogenic right ventricular cardiomyopathy (ARVC), and 49.2% in restrictive cardiomyopathy (RCM),P < 0.001]. Comparing European geographical areas, genetic counselling was performed from 42.4% to 83.3% (P < 0.001). It was provided by a cardiologist (85.3%), geneticist (15.1%), genetic counsellor (11.3%), or a nurse (7.5%) (P < 0.001). Genetic testing was performed in 37.3% of all patients (48.8% in HCM, 18.6% in DCM, 55.6% in ARVC, and 43.6% in RCM,P < 0.001). Index patients with genetic testing were younger at diagnosis and had more familial disease, family history of sudden cardiac death, or implanted cardioverter defibrillators but less co-morbidities than those not tested (P < 0.001 for each comparison). At least one disease-causing variant was found in 41.7% of index patients with genetic testing (43.3% in HCM, 33.3% in DCM, 51.4% in ARVC, and 42.9% in RCM,P = 0.13). Conclusions This is the first detailed report on the real-life practice of genetic counselling and testing in cardiomyopathies in Europe. Genetic counselling and testing were performed in a substantial proportion of patients but less often than recommended by European guidelines and much less in DCM than in HCM and ARVC, despite evidence for genetic background., This work was supported by Abbott Vascular International (2011-2021), Amgen Cardiovascular (2009-2018), AstraZeneca (2014-2021), Bayer AG (2009-2018), Boehringer Ingelheim (2009-2019), Boston Scientific (2009-2012), The Bristol Myers Squibb and Pfizer Alliance (2011-2019), Daiichi Sankyo Europe GmbH (2011-2020), The Alliance Daiichi Sankyo Europe GmbH and Eli Lilly and Company (2014-2017), Edwards (2016-2019), Gedeon Richter Plc. (2014-2016), Menarini Int. Op. (2009-2012), MSD-Merck & Co. (2011-2014), Novartis Pharma AG (2014-2020), ResMed (2014-2016), Sanofi (2009-2011), Servier (2009-2021), and Vifor (2019-2022). Funders had no role in the study design, data analyses, and manuscript drafting.

Published
2020

26. Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers

Author

Lorenzini, Massimiliano, Norrish, Gabrielle, Field, Ella, Ochoa, Juan Pablo, Cicerchia, Marcos, Akhtar, Mohammed M., Syrris, Petros, Lopes, Luis, Kaski, Juan Pablo, Elliot, Perry, Lorenzini, Massimiliano, Norrish, Gabrielle, Field, Ella, Ochoa, Juan Pablo, Cicerchia, Marcos, Akhtar, Mohammed M., Syrris, Petros, Lopes, Luis, Kaski, Juan Pablo, and Elliot, Perry

Abstract

[Abstract] Background. Predictive genetic screening of relatives of patients with hypertrophic cardiomyopathy (HCM) caused by sarcomere protein (SP) gene mutations is current standard of care, but there are few data on long-term outcomes in mutation carriers without HCM. Objectives. The aim of this study was to determine the incidence of new HCM diagnosis in SP mutation carriers. Methods. This was a retrospective analysis of adult and pediatric SP mutation carriers identified during family screening who did not fulfill diagnostic criteria for HCM at first evaluation. Results. The authors evaluated 285 individuals from 156 families (median age 14.2 years [interquartile range: 6.8 to 31.6 years], 141 [49.5%] male individuals); 145 (50.9%) underwent cardiac magnetic resonance (CMR). Frequency of causal genes was as follows: MYBPC3 n = 123 (43.2%), MYH7 n = 69 (24.2%), TNNI3 n = 39 (13.7%), TNNT2 n = 34 (11.9%), TPM1 n = 9 (3.2%), MYL2 n = 6 (2.1%), ACTC1 n = 1 (0.4%), multiple mutations n = 4 (1.4%). Median follow-up was 8.0 years (interquartile range: 4.0 to 13.3 years) and 86 (30.2%) patients developed HCM; 16 of 50 (32.0%) fulfilled diagnostic criteria on CMR but not echocardiography. Estimated HCM penetrance at 15 years of follow-up was 46% (95% confidence interval [CI]: 38% to 54%). In a multivariable model adjusted for age and stratified for CMR, independent predictors of HCM development were male sex (hazard ratio [HR]: 2.91; 95% CI: 1.82 to 4.65) and abnormal electrocardiogram (ECG) (HR: 4.02; 95% CI: 2.51 to 6.44); TNNI3 variants had the lowest risk (HR: 0.19; 95% CI: 0.07 to 0.55, compared to MYBPC3). Conclusions. Following a first negative screening, approximately 50% of SP mutation carriers develop HCM over 15 years of follow-up. Male sex and an abnormal ECG are associated with a higher risk of developing HCM. Regular CMR should be considered in long-term screening.

Published
2020

27. Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

Author

Onderzoek Precision medicine, Team Medisch, Circulatory Health, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Lopez-Sainz, Angela, Dominguez, Fernando, Lopes, Luis Rocha, Ochoa, Juan Pablo, Barriales-Villa, Roberto, Climent, Vicente, Linschoten, Marijke, Tiron, Coloma, Chiriatti, Chiara, Marques, Nuno, Rasmussen, Torsten B, Espinosa, María Ángeles, Beinart, Roy, Quarta, Giovanni, Cesar, Sergi, Field, Ella, Garcia-Pinilla, Jose M, Bilinska, Zofia, Muir, Alison R, Roberts, Angharad M, Santas, Enrique, Zorio, Esther, Peña-Peña, Maria Luisa, Navarro, Marina, Fernandez, Adrian, Palomino-Doza, Julian, Azevedo, Olga, Lorenzini, Massimiliano, García-Álvarez, Maria I, Bento, Dina, Jensen, Morten K, Méndez, Irene, Pezzoli, Laura, Sarquella-Brugada, Georgia, Campuzano, Oscar, Gonzalez-Lopez, Esther, Mogensen, Jens, Kaski, Juan Pablo, Arad, Michael, Brugada, Ramon, Asselbergs, Folkert W, Monserrat, Lorenzo, Olivotto, Iacopo, Elliott, Perry M, Garcia-Pavia, Pablo, European Genetic Cardiomyopathies Initiative Investigators, Onderzoek Precision medicine, Team Medisch, Circulatory Health, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Lopez-Sainz, Angela, Dominguez, Fernando, Lopes, Luis Rocha, Ochoa, Juan Pablo, Barriales-Villa, Roberto, Climent, Vicente, Linschoten, Marijke, Tiron, Coloma, Chiriatti, Chiara, Marques, Nuno, Rasmussen, Torsten B, Espinosa, María Ángeles, Beinart, Roy, Quarta, Giovanni, Cesar, Sergi, Field, Ella, Garcia-Pinilla, Jose M, Bilinska, Zofia, Muir, Alison R, Roberts, Angharad M, Santas, Enrique, Zorio, Esther, Peña-Peña, Maria Luisa, Navarro, Marina, Fernandez, Adrian, Palomino-Doza, Julian, Azevedo, Olga, Lorenzini, Massimiliano, García-Álvarez, Maria I, Bento, Dina, Jensen, Morten K, Méndez, Irene, Pezzoli, Laura, Sarquella-Brugada, Georgia, Campuzano, Oscar, Gonzalez-Lopez, Esther, Mogensen, Jens, Kaski, Juan Pablo, Arad, Michael, Brugada, Ramon, Asselbergs, Folkert W, Monserrat, Lorenzo, Olivotto, Iacopo, Elliott, Perry M, Garcia-Pavia, Pablo, and European Genetic Cardiomyopathies Initiative Investigators

Published
2020

29. Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective

Author

Rapezzi, Claudio, Quarta, Candida Cristina, Obici, Laura, Perfetto, Federico, Longhi, Simone, Salvi, Fabrizio, Biagini, Elena, Lorenzini, Massimiliano, Grigioni, Francesco, Leone, Ornella, Cappelli, Francesco, Palladini, Giovanni, Rimessi, Paola, Ferlini, Alessandra, Arpesella, Giorgio, Pinna, Antonio Daniele, Merlini, Giampaolo, and Perlini, Stefano

Published
2013
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33. Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

Author

Lopez-Sainz, Angela, primary, Dominguez, Fernando, additional, Lopes, Luis Rocha, additional, Ochoa, Juan Pablo, additional, Barriales-Villa, Roberto, additional, Climent, Vicente, additional, Linschoten, Marijke, additional, Tiron, Coloma, additional, Chiriatti, Chiara, additional, Marques, Nuno, additional, Rasmussen, Torsten B., additional, Espinosa, María Ángeles, additional, Beinart, Roy, additional, Quarta, Giovanni, additional, Cesar, Sergi, additional, Field, Ella, additional, Garcia-Pinilla, Jose M., additional, Bilinska, Zofia, additional, Muir, Alison R., additional, Roberts, Angharad M., additional, Santas, Enrique, additional, Zorio, Esther, additional, Peña-Peña, Maria Luisa, additional, Navarro, Marina, additional, Fernandez, Adrian, additional, Palomino-Doza, Julian, additional, Azevedo, Olga, additional, Lorenzini, Massimiliano, additional, García-Álvarez, Maria I., additional, Bento, Dina, additional, Jensen, Morten K., additional, Méndez, Irene, additional, Pezzoli, Laura, additional, Sarquella-Brugada, Georgia, additional, Campuzano, Oscar, additional, Gonzalez-Lopez, Esther, additional, Mogensen, Jens, additional, Kaski, Juan Pablo, additional, Arad, Michael, additional, Brugada, Ramon, additional, Asselbergs, Folkert W., additional, Monserrat, Lorenzo, additional, Olivotto, Iacopo, additional, Elliott, Perry M., additional, Garcia-Pavia, Pablo, additional, Barriales, Roberto, additional, Larrañaga-Moreira, Jose María, additional, Alonso-García, Diego, additional, Cárdenas-Reyes, Ivonne Johana, additional, Cicerchia, Marcos, additional, García-Ferro, German, additional, García-Hernández, Soledad, additional, Nöel-Bröger, María, additional, Ortiz, Martin, additional, Azevedo, Pedro, additional, Bispo, João, additional, Mota, Teresa, additional, Fernandes, Raquel, additional, Costa, Hugo, additional, Doza, Julian Palomino, additional, Salguero-Bodes, Rafael, additional, Valverde-Gomez, Maria, additional, Espinosa, Maria Angeles, additional, Mendez, Irene, additional, Cobo-Marcos, Marta, additional, Domínguez, Fernando, additional, Escobar, Luis, additional, González-López, Esther, additional, López-Sainz, Ángela, additional, Segovia-Cubero, Javier, additional, Vilches, Silvia, additional, Garcia-Pinilla, Jose Manuel, additional, Robles-Mezcua, Ainhoa, additional, López-Garrido, Miguel, additional, Hidalgo, Luis Morcillo, additional, Abad, Victoria Doncel, additional, Sabater-Molina, Maria, additional, Gimeno-Blanes, Juan Ramón, additional, Barton, Paul J., additional, Cook, Stuart A., additional, Ware, James S., additional, Syrris, Petros, additional, Truszkowska, Grażyna, additional, Michalak, Ewa, additional, Ploski, Rafal, additional, Bilińska, Zofia, additional, Asselbergs, Folkert, additional, Baas, Annette F., additional, and Dooijes, Dennis, additional

Published
2020
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34. Carpal tunnel syndrome in cardiac amyloidosis: implications for early diagnosis and prognostic role across the spectrum of aetiologies

Author

Milandri, Agnese, primary, Farioli, Andrea, additional, Gagliardi, Christian, additional, Longhi, Simone, additional, Salvi, Fabrizio, additional, Curti, Stefania, additional, Foffi, Serena, additional, Caponetti, Angelo Giuseppe, additional, Lorenzini, Massimiliano, additional, Ferlini, Alessandra, additional, Rimessi, Paola, additional, Mattioli, Stefano, additional, Violante, Francesco Saverio, additional, and Rapezzi, Claudio, additional

Published
2020
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36. Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure

Author

Gagliardi, Christian, Perfetto, Federico, Lorenzini, Massimiliano, Ferlini, Alessandra, Salvi, Fabrizio, Milandri, Agnese, Quarta, Cristina Candida, Taborchi, Giulia, Bartolini, Simone, Frusconi, Sabrina, Martone, Raffaele, Cinelli, Michele Mario, Foffi, Serena, Reggiani, Maria Letizia Bacchi, Fabbri, Gioele, Cataldo, Paolo, Cappelli, Francesco, Rapezzi, Claudio, Gagliardi, Christian, Perfetto, Federico, Lorenzini, Massimiliano, Ferlini, Alessandra, Salvi, Fabrizio, Milandri, Agnese, Quarta, Cristina Candida, Taborchi, Giulia, Bartolini, Simone, Frusconi, Sabrina, Martone, Raffaele, Cinelli, Michele Mario, Foffi, Serena, Reggiani, Maria Letizia Bacchi, Fabbri, Gioele, Cataldo, Paolo, Cappelli, Francesco, and Rapezzi, Claudio

Subjects
Male, Cardiomyopathy, Heart Ventricles, Left, DNA Mutational Analysis, Amyloid Neuropathies, Transthyretin, Ventricular Function, Left, NO, Electrocardiography, Familial, Amyloidosi, 80 and over, Ventricular Function, Humans, LS2_6, Aged, Retrospective Studies, Aged, 80 and over, Heart Failure, Amyloid Neuropathies, Familial, Incidence, Amyloidosis, Heart failure, Cardiomyopathies, Echocardiography, Female, Follow-Up Studies, Italy, Mutation, Phenotype, Survival Rate, Cardiology and Cardiovascular Medicine
Abstract

Aims: Cardiac amyloidosis remains a great challenge for the cardiologist. One of the three main aetiological forms, transthyretin-related hereditary amyloidosis (ATTRm), can present with several phenotypes, depending mainly on the specific mutation. We aimed to characterize the phenotype of patients with ATTRm due to Ile68Leu mutation, comparing them to patients with wild-type transthyretin amyloidosis (ATTRwt). Methods and results: Data of 67 Ile68Leu ATTRm patients from two Italian referral centres (Bologna and Florence) were retrospectively analysed and compared to those of 82 ATTRwt patients. Fifty-five unaffected mutation carriers were also analysed. Cumulative disease onset was 50% at age 71. A total of 56/67 (84%) patients had a predominantly cardiac phenotype at presentation with concentric increase in left ventricular wall thickness [median 17 mm], and normal or near normal left ventricular ejection fraction (79% of patients). Low QRS voltages were present only in 29% of patients but voltage/mass ratio was low (0.5). Carpal tunnel syndrome was noted in 43%. The overall phenotypic profile was similar to ATTRwt but Ile68Leu ATTRm patients typically presented younger (median 71 vs. 78 years) and were more likely to have (mild) symptomatic neurological involvement (19% vs. 2%). Male prevalence was 44% in unaffected mutation carriers and 78% in affected patients. Age-adjusted survival was comparable between groups. Conclusions: Ile68Leu ATTRm is a cause of familial amyloidotic cardiomyopathy endemic in central-northern Italy and presents as hypertrophic/restrictive cardiomyopathy quite similar to ATTRwt. Male preponderance is present in affected patients but not in unaffected mutation carriers. Age-adjusted survival is similar to ATTRwt.

Published
2018

37. Excess mortality and sex differences in outcome in hypertrophic cardiomyopathy: a European multicentre study

Author

Lorenzini, Massimiliano

Subjects
MED/11 Malattie dell'apparato cardiovascolare
Abstract

Background. Contemporary survival studies in hypertrophic cardiomyopathy (HCM) have shown that the prognosis for most individuals with the disease is much better than described previously, but it remains unclear whether HCM conveys an excess mortality when compared to the general population. Methods. We conducted a retrospective, multicentre longitudinal cohort study of adult HCM patients from 7 European centers. To compare survival to the general population standardized mortality ratios (SMR) were calculated using data from Eurostat stratified by study period, country, sex and age, using a composite endpoint (all-cause mortality, sudden cardiac death (SCD) equivalent, and heart transplantation). Results. The study population consisted of 4893 patients (mean age 49.2 ± 16.4 years; 64% male). After a median follow up of 6.1 years (IQR 3.0-9.8), 796 (16.3%) patients reached the composite endpoint. HCM had an excess mortality compared to the general population (SMR 2.23 (95% Confidence Interval (CI):1.66-2.94)). Females were older at presentation, more symptomatic at baseline (NYHA III/IV: 17.1% vs 7.5%) and more likely to have left ventricular outflow tract obstruction and atrial fibrillation. Female patients had a greater excess mortality than males (SMR 2.87 (95% CI: 2.57-3.19) vs 1.92 (95% CI: 1.76-2.11); p

Published
2019
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38. Excess mortality and sex differences in outcome in hypertrophic cardiomyopathy: a European multicentre study

Author

Rapezzi, Claudio, Lorenzini, Massimiliano <1983>, Rapezzi, Claudio, and Lorenzini, Massimiliano <1983>

Abstract

Background. Contemporary survival studies in hypertrophic cardiomyopathy (HCM) have shown that the prognosis for most individuals with the disease is much better than described previously, but it remains unclear whether HCM conveys an excess mortality when compared to the general population. Methods. We conducted a retrospective, multicentre longitudinal cohort study of adult HCM patients from 7 European centers. To compare survival to the general population standardized mortality ratios (SMR) were calculated using data from Eurostat stratified by study period, country, sex and age, using a composite endpoint (all-cause mortality, sudden cardiac death (SCD) equivalent, and heart transplantation). Results. The study population consisted of 4893 patients (mean age 49.2 ± 16.4 years; 64% male). After a median follow up of 6.1 years (IQR 3.0-9.8), 796 (16.3%) patients reached the composite endpoint. HCM had an excess mortality compared to the general population (SMR 2.23 (95% Confidence Interval (CI):1.66-2.94)). Females were older at presentation, more symptomatic at baseline (NYHA III/IV: 17.1% vs 7.5%) and more likely to have left ventricular outflow tract obstruction and atrial fibrillation. Female patients had a greater excess mortality than males (SMR 2.87 (95% CI: 2.57-3.19) vs 1.92 (95% CI: 1.76-2.11); p<0.001). Excess mortality in females was present throughout the age spectrum while mortality in male patients after the age of 65 years was similar to the normal population. Female sex was independently associated with a worse prognosis in the multivariable model for the primary composite endpoint (HR 1.19, 95% CI:1.06-1.30;p=0.007) and HF death or transplantation (HR 1.44, 95% CI:1.25-1.59;p<0.001), but not SCD or equivalent. Conclusions. HCM is associated with a significant excess mortality throughout the life course. Women have a worse prognosis that is at least partly due to an excess HF mortality.

Published
2019

39. Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure.

Author

Akhtar, Mohammed Majid, Lorenzini, Massimiliano, Pavlou, Menelaos, Ochoa, Juan Pablo, O'Mahony, Constantinos, Restrepo-Cordoba, Maria Alejandra, Segura-Rodriguez, Diego, Bermúdez-Jiménez, Francisco, Molina, Pilar, Cuenca, Sofia, Ader, Flavie, Larrañaga-Moreira, Jose M., Sabater-Molina, Maria, Garcia-Alvarez, Maria I., Arantzamendi, Larraitz Gaztañaga, Truszkowska, Grazyna, Ortiz-Genga, Martin, Ruiz, Itziar Solla, Nielsen, Søren Kristian, and Rasmussen, Torsten Bloch

Published
2021
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45. Redefining the histopathologic profile of acute aortic syndromes: Clinical and prognostic implications

Author

Leone, Ornella, primary, Pacini, Davide, additional, Foà, Alberto, additional, Corsini, Anna, additional, Agostini, Valentina, additional, Corti, Barbara, additional, Di Marco, Luca, additional, Leone, Alessandro, additional, Lorenzini, Massimiliano, additional, Reggiani, Letizia Bacchi, additional, Di Bartolomeo, Roberto, additional, and Rapezzi, Claudio, additional

Published
2018
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47. Histological and histometric characterization of myocardial fibrosis in end-stage hypertrophic cardiomyopathy

Author

Galati, Giuseppe, Leone, Ornella, Pasquale, Ferdinando, Olivotto, Iacopo, Biagini, Elena, Grigioni, Francesco, Pilato, Emanuele, Lorenzini, Massimiliano, Corti, Barbara, Foà, Alberto, Agostini, Valentina, Cecchi, Franco, and Rapezzi, Claudio

Subjects
biomarkers, magnetic resonance imaging, hypertrophic cardiomyopathy, magnetic resonance spectroscopy, sudden cardiac death, Cardiology and Cardiovascular Medicine, NO
Published
2016

48. Isolated aortic root dilation in homocystinuria

Author

Lorenzini, Massimiliano, primary, Guha, Nishan, additional, Davison, James E., additional, Pitcher, Alex, additional, Pandya, Bejal, additional, Kemp, Helena, additional, Lachmann, Robin, additional, Elliott, Perry M., additional, and Murphy, Elaine, additional

Published
2017
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50. Clinical characteristics of wild-type transthyretin cardiac amyloidosis: disproving myths

Author

González-López, Esther, primary, Gagliardi, Christian, additional, Dominguez, Fernando, additional, Quarta, Cristina Candida, additional, de Haro-del Moral, F. Javier, additional, Milandri, Agnese, additional, Salas, Clara, additional, Cinelli, Mario, additional, Cobo-Marcos, Marta, additional, Lorenzini, Massimiliano, additional, Lara-Pezzi, Enrique, additional, Foffi, Serena, additional, Alonso-Pulpon, Luis, additional, Rapezzi, Claudio, additional, and Garcia-Pavia, Pablo, additional

Published
2017
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