Article
Multidisciplinary Sciences
Vladan P. Bajic, Adil Salhi, Katja Lakota, Aleksandar Radovanovic, Rozaimi Razali, Lada Zivkovic, Biljana Spremo-Potparevic, Mahmut Uludag, Faroug Tifratene, Olaa Motwalli, Benoit Marchand, Vladimir B. Bajic, Takashi Gojobori, Esma R. Isenovic, Magbubah Essack
Summary: This study developed a knowledgebase dedicated to human amyloid-related diseases, obtaining relevant information through text and data mining. The knowledgebase provides a systematic way to understand amyloidosis processes and related diseases, and allows information exploration through different options.
Review
Cardiac & Cardiovascular Systems
Riccardo Scirpa, Edoardo Cittadini, Lorenzo Mazzocchi, Giacomo Tini, Matteo Sclafani, Domitilla Russo, Andrea Imperatrice, Alessandro Tropea, Camillo Autore, Beatrice Musumeci
Summary: Transthyretin related cardiac amyloidosis (TTR-CA) is increasingly recognized due to a non-invasive diagnostic algorithm. The disease has two stages - presymptomatic and symptomatic, with the need to diagnose in the first stage becoming more urgent. Risk stratification is important to identify patients at higher risk of cardiovascular events and death, with proposed prognostic scores based on biomarkers and laboratory findings. A multiparametric approach combining information from various tests may be necessary for comprehensive risk prediction and management.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Medicine, General & Internal
Giacomo Tini, Eugenio Sessarego, Stefano Benenati, Pier Filippo Vianello, Beatrice Musumeci, Camillo Autore, Marco Canepa
Summary: Screening with bone scintigraphy revealed a prevalence of 11-15% of TTR-CA in patients with AS, HFpEF, and LVH/HCM. Patients with AS and HFpEF were typically older than 80 years at TTR-CA diagnosis and often had comorbidities. Several studies showed limitations in applying the recommended TTR-CA diagnostic algorithm, which should be addressed in future prospective studies.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
(2021)
Review
Clinical Neurology
Fiore Manganelli, Gian Maria Fabrizi, Marco Luigetti, Paola Mandich, Anna Mazzeo, Davide Pareyson
Summary: Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis is a rare autosomal dominantly inherited disorder caused by mutations in the transthyretin (TTR) gene. The disease is characterized by amyloid deposits and monomer-oligomer toxicity in various systems, with the peripheral nervous system and heart being most affected. Recent advancements in understanding the pathogenesis have led to the development of novel drugs that are rapidly changing the natural history of the disease, posing challenges for timely diagnosis, presymptomatic testing, and management of carriers.
NEUROLOGICAL SCIENCES
(2022)
Review
Cardiac & Cardiovascular Systems
Alexios S. Antonopoulos, Ioannis Panagiotopoulos, Alexandrina Kouroutzoglou, Georgios Koutsis, Pantelis Toskas, Georgios Lazaros, Konstantinos Toutouzas, Dimitris Tousoulis, Konstantinos Tsioufis, Charalambos Vlachopoulos
Summary: This study provides evidence on the prevalence and clinical outcome of transthyretin amyloidosis (ATTR), exploring its prevalence in different patient subgroups, survival estimates for ATTR subtypes, and the effects of novel therapeutics on the disease course. The findings identify important gaps in worldwide epidemiology research on ATTR.
EUROPEAN JOURNAL OF HEART FAILURE
(2022)
Article
Cardiac & Cardiovascular Systems
Julia Kozlitina, Sonia Garg, Mark H. Drazner, Susan A. Matulevicius, Colby Ayers, John Overton, Jeffrey Reid, Aris Baras, Krishnasree Rao, Ambarish Pandey, Jarett Berry, James A. de Lemos, Justin L. Grodin
Summary: V122I TTR carriers exhibit slightly increased left ventricular wall thickness and higher levels of NT-proBNP, and are at a greater risk for heart failure, cardiovascular death, and all-cause mortality compared to noncarriers.
JOURNAL OF CARDIAC FAILURE
(2022)
Review
Cardiac & Cardiovascular Systems
Daniela Tomasoni, Giovanni Battista Bonfioli, Alberto Aimo, Marianna Adamo, Marco Canepa, Riccardo M. Inciardi, Carlo Mario Lombardi, Matilde Nardi, Matteo Pagnesi, Mauro Riccardi, Giuseppe Vergaro, Enrico Vizzardi, Michele Emdin, Marco Metra
Summary: Increasing awareness, diagnostic tools, and therapeutic opportunities have significantly changed the management of patients with ATTR-CM. Supportive therapies have limited benefits while disease-modifying treatments targeting the amyloidogenic cascade show promising results. Tafamidis is the only approved drug for ATTR-CM, while patisiran and inotersen have been approved for hereditary ATTR polyneuropathy. Ongoing clinical trials are investigating other potential treatments, including vutrisiran and eplontersen.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Genetics & Heredity
Zoltan Pozsonyi, Gergely Pesko, Hedvig Takacs, Dorottya Csuka, Viktoria Nagy, Agnes Szilagyi, Lidia Hategan, Balazs Muk, Beata Csanyi, Noemi Nyolczas, Livia Dezsi, Judit Maria Molnar, Anita Csillik, Katalin Revesz, Bela Ivanyi, Fruzsina Szabo, Krisztian Birtalan, Tamas Masszi, Zsuzsanna Aranyi, Robert Sepp
Summary: In Hungary, 40 individuals in 23 families with ATTRv were identified, with 24 symptomatic patients. The most common mutations were ATTRHis88Arg and ATTRIle107Val, with restrictive cardiomyopathy and polyneuropathy as the main clinical significant organ involvement.
Article
Genetics & Heredity
Wei-Zhen Zhou, Wenke Li, Huayan Shen, Ruby W. Wang, Wen Chen, Yujing Zhang, Qingyi Zeng, Hao Wang, Meng Yuan, Ziyi Zeng, Jinhui Cui, Chuan-Yun Li, Fred Y. Ye, Zhou Zhou
Summary: This study developed an evidence-based knowledgebase of congenital heart disease (CHD) that provides comprehensive information on CHD-related genes and clinical manifestations. Through the integration of data from 1114 publications, it links 1124 susceptibility genes and 3591 variations to over 300 CHD types and related syndromes. The knowledgebase also includes functional annotations from 50 databases/tools to facilitate the interpretation of gene and variation effects on disease pathogenicity. A core CHD sub-network of 163 genes was extracted using a gene interaction network approach. Overall, CHDbase is a valuable resource for studying CHD susceptibilities.
GENOMICS PROTEOMICS & BIOINFORMATICS
(2023)
Article
Genetics & Heredity
Suk-Chan Jang, Jin Hyun Nam, Seung-Ah Lee, Dasom An, Hye-Lin Kim, Sun-Hong Kwon, Eui-Kyung Lee
Summary: In this population-based study, it was found that patients with transthyretin cardiac amyloidosis (ATTR-CM) commonly had hypertension and musculoskeletal disease as manifestations. The study also revealed that these patients had high medical costs and short survival time. To reduce the clinical and economic burdens, careful examination of the manifestations of the disease in patients can aid in achieving early diagnosis and treatment.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Cardiac & Cardiovascular Systems
Alan B. Miller, James L. Januzzi, Blair J. O'Neill, Balarama Gundapaneni, Terrell A. Patterson, Marla B. Sultan, Jose Lopez-Sendon
Summary: In the ATTR-ACT study, tafamidis significantly reduced mortality and cardiovascular-related hospitalizations in patients with transthyretin amyloid cardiomyopathy. The most common cause of CV-related death and hospitalization was heart failure, with tafamidis demonstrating lower rates compared to placebo. These findings provide valuable insights into disease progression and treatment efficacy in patients with ATTR-CM.
AMERICAN JOURNAL OF CARDIOLOGY
(2021)
Review
Cardiac & Cardiovascular Systems
Ana Carolina Alba, Shyla Gupta, Lakshmi Kugathasan, Andrew Ha, Alejandro Ochoa, Meyer Balter, Alvaro Sosa Liprandi, Maria Ines Sosa Liprandi
Summary: Cardiac sarcoidosis can be symptomatic or asymptomatic, with diagnosis based on clinical presentation, nuclear studies, and cardiac magnetic resonance. Treatment involves immunosuppressive medications and HF medical therapies, with consideration of implantable cardioverter-defibrillators for high-risk patients. In severe cases, heart transplant or mechanical circulatory support may be life-saving options.
CURRENT PROBLEMS IN CARDIOLOGY
(2021)
Article
Medicine, General & Internal
Joshua Saef, Trejeeve Martyn, Anusha Ray Dey, Rola Khedraki, Lauren Ives, Patrick Collier, Wael A. Jaber, Jerry D. Estep, Mazen Hanna, Wai Hong Wilson Tang
Summary: This study reveals that in patients with impaired left ventricular ejection fraction (LVEF) due to ATTR-CM, more than one-third of patients showed improvement in LVEF over time, while those with a decrease in LVEF had worse long-term outcomes.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Clinical Neurology
Vanessa Carvalho, Carlota Cunha, Raquel Rocha, Joao Massano, Filipe Correia, Paulo Coelho, Sara Franca, Vitor Tedim Cruz, Catarina Cruto
Summary: In a study of ATTR-FAP patients presenting with transient events, most events were TIA-like or seizures, with some patients experiencing fever. The etiology remains unclear, but brain MRI and EEG abnormalities suggest regional brain dysfunction due to amyloid deposition as a contributing factor.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Mario Nuvolone, Maria Girelli, Giampaolo Merlini
Summary: The care of systemic amyloidosis has greatly improved due to increased awareness, better diagnostic tools, prognostic biomarkers, and innovative drugs. This has led to a significant increase in interventional studies for light chain (AL) and transthyretin (ATTR) amyloidosis. Cardiologists have shown a particular interest in cardiac amyloidosis, with wild-type transthyretin (ATTRwt) cardiomyopathy becoming the most common form. This review focuses on oral drugs, such as tafamidis and diflunisal, that have been recently introduced for the treatment of ATTR cardiac amyloidosis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cardiac & Cardiovascular Systems
Ornella Leone, Anna Corsini, Davide Pacini, Barbara Corti, Massimiliano Lorenzini, Vera Laus, Alberto Foa, Maria Letizia Bacchi Reggiani, Luca Di Marco, Claudio Rapezzi
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2020)
Article
Cardiac & Cardiovascular Systems
Massimiliano Lorenzini, Gabrielle Norrish, Ella Field, Juan Pablo Ochoa, Marcos Cicerchia, M. Akhtar Mohammed, Petros Syrris, Luis R. Lopes, Juan Pablo Kaski, Perry M. Elliott
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2020)
Article
Cardiac & Cardiovascular Systems
Angela Lopez-Sainz, Fernando Dominguez, Luis Rocha Lopes, Juan Pablo Ochoa, Roberto Barriales-Villa, Vicente Climent, Marijke Linschoten, Coloma Tiron, Chiara Chiriatti, Nuno Marques, Torsten B. Rasmussen, Maria Angeles Espinosa, Roy Beinart, Giovanni Quarta, Sergi Cesar, Ella Field, Jose M. Garcia-Pinilla, Zofia Bilinska, Alison R. Muir, Angharad M. Roberts, Enrique Santas, Esther Zorio, Maria Luisa Pena-Pena, Marina Navarro, Adrian Fernandez, Julian Palomino-Doza, Olga Azevedo, Massimiliano Lorenzini, Maria I. Garcia-Alvarez, Dina Bento, Morten K. Jensen, Irene Mendez, Laura Pezzoli, Georgia Sarquella-Brugada, Oscar Campuzano, Esther Gonzalez-Lopez, Jens Mogensen, Juan Pablo Kaski, Michael Arad, Ramon Brugada, Folkert W. Asselbergs, Lorenzo Monserrat, Iacopo Olivotto, Perry M. Elliott, Pablo Garcia-Pavia
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2020)
Article
Medicine, General & Internal
Jolanda Sabatino, Paolo Ferrero, Massimo Chessa, Francesco Bianco, Paolo Ciliberti, Aurelio Secinaro, Lilia Oreto, Martina Avesani, Valentina Bucciarelli, Giuseppe Calcaterra, Maria Pia Calabr, Maria Giovanna Russo, Pier Paolo Bassareo, Paolo Guccione, Ciro Indolfi, Giovanni Di Salvo
JOURNAL OF CLINICAL MEDICINE
(2020)
Article
Cardiac & Cardiovascular Systems
Tiina Helio, Perry Elliott, Juha W. Koskenvuo, Juan R. Gimeno, Luigi Tavazzi, Michal Tendera, Juan Pablo Kaski, Nicolas Mansencal, Zofia Bilinska, Gerry Carr-White, Thibaud Damy, Andrea Frustaci, Ingrid Kindermann, Tomas Ripoll-Vera, Jelena Celutkiene, Anna Axelsson, Massimiliano Lorenzini, Aly Saad, Aldo P. Maggioni, Cecile Laroche, Alida L. P. Caforio, Philippe Charron
Article
Cardiac & Cardiovascular Systems
Mohammed Majid Akhtar, Massimiliano Lorenzini, Marcos Cicerchia, Juan Pablo Ochoa, Thomas Morris Hey, Maria Sabater Molina, Maria Alejandra Restrepo-Cordoba, Matteo Dal Ferro, Davide Stolfo, Renee Johnson, Jose M. Larranaga-Moreira, Ainhoa Robles-Mezcua, Jose F. Rodriguez-Palomares, Guillem Casas, Maria Luisa Pena-Pena, Luis Rocha Lopes, Maria Gallego-Delgado, Maria Franaszczyk, Gemma Laucey, Diego Rangel-Sousa, Mayte Basurte, Julian Palomino-Doza, Eduardo Villacorta, Zofia Bilinska, Javier Limeres Freire, Jose M. Garcia Pinilla, Roberto Barriales-Villa, Diane Fatkin, Gianfranco Sinagra, Pablo Garcia-Pavia, Juan R. Gimeno, Jens Mogensen, Lorenzo Monserrat, Perry M. Elliott
CIRCULATION-HEART FAILURE
(2020)
Article
Radiology, Nuclear Medicine & Medical Imaging
Paolo Ciancarella, Paolo Ciliberti, Teresa Pia Santangelo, Francesco Secchi, Nicola Stagnaro, Aurelio Secinaro
Editorial Material
Cardiac & Cardiovascular Systems
Massimiliano Lorenzini, Mohammed Y. Khanji, Luis Rocha Lopes, Charlotte Manisty, Konstantinos Savvatis
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2021)
Article
Cardiac & Cardiovascular Systems
Mohammed Majid Akhtar, Massimiliano Lorenzini, Menelaos Pavlou, Juan Pablo Ochoa, Constantinos O'Mahony, Maria Alejandra Restrepo-Cordoba, Diego Segura-Rodriguez, Francisco Bermudez-Jimenez, Pilar Molina, Sofia Cuenca, Flavie Ader, Jose M. Larranaga-Moreira, Maria Sabater-Molina, Maria Garcia-Alvarez, Larraitz Gaztanaga Arantzamendi, Grazyna Truszkowska, Martin Ortiz-Genga, Itziar Solla Ruiz, Soren Kristian Nielsen, Torsten Bloch Rasmussen, Ainhoa Robles Mezcua, Jorge Alvarez-Rubio, Hans Eiskjaer, Mathias Gautel, Jose M. Garcia-Pinilla, Tomas Ripoll-Vera, Jens Mogensen, Javier Limeres Freire, Jose F. Rodriguez-Palomares, Maria Luisa Pena-Pena, Diego Rangel-Sousa, Julian Palomino-Doza, Xabier Arana Achaga, Zofia Bilinska, Estibaliz Zamarreno Golvano, Vincent Climent, Marina Navarro Penalver, Roberto Barriales-Villa, Philippe Charron, Raquel Yotti, Esther Zorio, Juan Jimenez-Jaimez, Pablo Garcia-Pavia, Perry M. Elliott
Summary: Patients with FLNC truncating variants are at higher risk of adverse events, especially among those with mild to moderate left ventricular systolic dysfunction, suggesting the consideration of higher LVEF values for prophylactic implantable cardioverter-defibrillator therapy.
Article
Cardiac & Cardiovascular Systems
Luis R. Lopes, Soledad Garcia-Hernandez, Massimiliano Lorenzini, Marta Futema, Olga Chumakova, Dmitry Zateyshchikov, Maria Isidoro-Garcia, Eduardo Villacorta, Luis Escobar-Lopez, Pablo Garcia-Pavia, Raquel Bilbao, David Dobarro, Maria Sandin-Fuentes, Claudio Catalli, Blanca Gener Querol, Ainhoa Mezcua, Jose Garcia Pinilla, Torsten Bloch Rasmussen, Ana Ferreira-Aguar, Pablo Revilla-Marti, Maria Teresa Basurte Elorz, Alicia Bautista Paves, Juan Ramon Gimeno, Ana Virginia Figueroa, Raul Franco-Gutierrez, Maria Eugenia Fuentes-Canamero, Marina Martinez Moreno, Martin Ortiz-Genga, Jesus Piqueras-Flores, Karina Analia Ramos, Ainars Rudzitis, Luis Ruiz-Guerrero, Ricardo Stein, Mayte Triguero-Bocharan, Luis de la Higuera, Juan Pablo Ochoa, Dad Abu-Bonsrah, Cecilia Y. T. Kwok, Jacob B. Smith, Enzo R. Porrello, Mohammed M. Akhtar, Joanna Jager, Michael Ashworth, Petros Syrris, David A. Elliott, Lorenzo Monserrat, Perry M. Elliott
Summary: The study identified a low but pathogenic frequency of heterozygous ALPK3tv in patients with HCM, which was confirmed through family co segregation studies. ALPK3tv carriers exhibited a characteristic HCM phenotype, showing different clinical and imaging features compared to patients with sarcomere gene variants.
EUROPEAN HEART JOURNAL
(2021)
Article
Cardiac & Cardiovascular Systems
Candida Cristina Quarta, Jiexin Zheng, David Hutt, Simona F. Grigore, Richa Manwani, Sajitha Sachchithanantham, Shameem A. Mahmood, Carol J. Whelan, Marianna Fontana, Ana Martinez-Naharro, Liza Chacko, Helen J. Lachmann, Julian D. Gillmore, Claudio Rapezzi, Philip N. Hawkins, Ashutosh D. Wechalekar
Summary: Among AL CA patients, 39% had cardiac uptake of Tc-99m-DPD, with varying degrees. Those with cardiac uptake showed poorer cardiac function and higher NT-proBNP levels, and trended towards worse survival. Serial imaging showed a reduction in cardiac uptake in 23% of patients.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2021)
Editorial Material
Cardiac & Cardiovascular Systems
Perry M. Elliott, Massimiliano Lorenzini
JACC-CARDIOVASCULAR IMAGING
(2022)
Editorial Material
Cardiac & Cardiovascular Systems
Massimiliano Lorenzini, Perry M. Elliott
EUROPEAN HEART JOURNAL
(2023)
Article
Cardiac & Cardiovascular Systems
George Joy, Christopher I. Kelly, Matthew Webber, Iain Pierce, Irvin Teh, Louise Mcgrath, Paula Velazquez, Rebecca K. Hughes, Huafrin Kotwal, Arka Das, Fiona Chan, Athanasios Bakalakos, Massimiliano Lorenzini, Konstantinos Savvatis, Saidi A. Mohiddin, Peter W. Macfarlane, Michele Orini, Charlotte Manisty, Peter Kellman, Rhodri H. Davies, Pier D. Lambiase, Christopher Nguyen, Jurgen E. Schneider, Maite Tome, Gabriella Captur, Erica Dall'Armellina, James C. Moon, Luis R. Lopes
Summary: In patients with hypertrophic cardiomyopathy, alterations in myocardial microstructure and microvascular disease have been found to occur early in the disease process. These changes serve as potential early phenotype biomarkers for disease detection and management.
Article
Cardiac & Cardiovascular Systems
Claudio Rapezzi, Massimiliano Lorenzini
EUROPEAN HEART JOURNAL SUPPLEMENTS
(2020)