Article
Cell Biology
Chathurika Henpita, Rajesh Vyas, Chastity L. Healy, Tra L. Kieu, Aditi U. Gurkar, Matthew J. Yousefzadeh, Yuxiang Cui, Aiping Lu, Luise A. Angelini, Ryan D. O'Kelly, Sara J. McGowan, Sanjay Chandrasekhar, Rebecca R. Vanderpool, Danielle Hennessy-Wack, Mark A. Ross, Timothy N. Bachman, Charles McTiernan, Smitha P. S. Pillai, Warren Ladiges, Mitra Lavasani, Johnny Huard, Donna Beer-Stolz, Claudette M. St. Croix, Simon C. Watkins, Paul D. Robbins, Ana L. Mora, Eric E. Kelley, Yinsheng Wang, Timothy D. O'Connell, Laura J. Niedernhofer
Summary: Cardiomyopathy is a progressive disease of the myocardium leading to impaired contractility. This study shows that endogenous genotoxic stress contributes to the development of cardiomyopathy by activating the p53 pathway and increasing oxidative stress, leading to cardiac myocyte apoptosis, dilated cardiomyopathy, and sudden death.
Article
Cardiac & Cardiovascular Systems
Maria A. Restrepo-Cordoba, Karim Wahbi, Anca R. Florian, Juan Jimenez-Jaimez, Luisa Politano, Michael Arad, Vicente Climent-Paya, Ana Garcia-Alvarez, Rasmus B. Hansen, Jose M. Larranaga-Moreira, Milos Kubanek, Luis R. Lopes, Andrea Ros, Ruxandra Jurcut, Torsten B. Rasmussen, Luis Ruiz-Guerrero, Regina Pribe-Wolferts, Julian Palomino-Doza, Zofia Bilinska, Jose F. Rodriguez-Palomares, Rosa L. E. Van Loon, Maria Teresa Basurte Elorz, Giovanni Quarta, Maria Robledo Inarritu, Job A. J. Verdonschot, Tanya Stojkovic, Zornitsa Shomanova, Francisco Bermudez-Jimenez, Alberto Palladino, Dov Freimark, Maria I. Garcia-alvarez, Paloma Jorda, Fernando Dominguez, Juan Pablo Ochoa, Francesca Girolami, Ramon Brugada, Benjamin Meder, Roberto Barriales-Villa, Jens Mogensen, Pascal Laforet, Ali Yilmaz, Perry Elliott, Pablo Garcia-Pavia
Summary: DMD-associated DCM in individuals without severe skeletal myopathy is characterized by incomplete penetrance, high risk of MACE, and similar survival regardless of the presence of skeletal myopathy. Onset of DCM is a major determinant of prognosis, with decreased LVEF and increased left ventricular end-diastolic diameter associated with MACE. Individuals without DCM have a favorable prognosis during follow-up.
EUROPEAN JOURNAL OF HEART FAILURE
(2021)
Article
Medicine, Research & Experimental
Hong Lian, Shen Song, Wenzheng Chen, Anteng Shi, Haobin Jiang, Shengshou Hu
Summary: This study aimed to characterize the genetic basis of dilated cardiomyopathy (DCM) in heart transplantation (HTx) patients in the Chinese population. The results showed that TTN and FLNC genes harbored a significant number of pathogenic and likely pathogenic variants, and FLNC truncation could lead to severe clinical symptoms in DCM patients.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Article
Medicine, General & Internal
Xinyi Li, Xiaonan Zhang, Yaoxin Liu, Fen Shu, Sisi Shao, Ning Tan, Lei Jiang
Summary: Serum chloride concentration is a prognostic indicator in elderly patients with NIDCM, and hypochloremia is significantly associated with both in-hospital and long-term poor outcomes.
Article
Cardiac & Cardiovascular Systems
Hiroki Mori, Tadahiro Yoshikawa, Hitomi Kimura, Hiroshi Ono, Hitoshi Kato, Yasuo Ono, Masaki Nii, Takahiro Shindo, Ryo Inuzuka, Hitoshi Horigome, Masaru Miura, Shunichi Ogawa, Junko Shiono, Yoshiyuki Furutani, Mikiko Ishido, Toshio Nakanishi
Summary: This retrospective multicenter study investigated the long-term survival rate in pediatric patients with dilated cardiomyopathy (DCM) in Japan. The results showed poor prognosis and low heart transplantation rate in pediatric DCM patients.
CIRCULATION JOURNAL
(2022)
Article
Pediatrics
Estela Azeka, Adam Arshad, Cristiane Martins, Anna Claudia Dominguez, Adailson Siqueira, Andre Silveira Loss, Marcelo Jatene, Nana Miura
Summary: The study described the clinical course of a newborn who developed dilated cardiomyopathy after COVID-19 infection, highlighting the importance of monitoring and intervention in such rare cases.
FRONTIERS IN PEDIATRICS
(2021)
Article
Cardiac & Cardiovascular Systems
Maria E. Marketou, Joanna Kontaraki, Alexandros Patrianakos, Emmanuel Kanoupakis, Anthoula Plevritaki, Hercules Mavrakis, Eleutherios Kallergis, Emmanuel Koutalas, Ioannis Anastasiou, Gregory Chlouverakis, Fragiskos Parthenakis
Summary: This study evaluated the gene expression levels of myocardin in patients with non-ischemic dilated cardiomyopathy (NIDCM) and found that lower levels of myocardin were associated with higher mortality rates, particularly from congestive heart failure. These findings suggest that myocardin expression in peripheral blood cells may serve as a prognostic biomarker for the long-term outcome of patients with NIDCM, offering new prospects in risk stratification for these patients.
Review
Biochemistry & Molecular Biology
Hamza El Hadi, Anne Freund, Steffen Desch, Holger Thiele, Nicolas Majunke
Summary: Cardiomyopathies are a diverse group of heart muscle disorders with potentially fatal consequences such as arrhythmias and heart failure. They are a leading cause of heart transplantation worldwide. Recent advancements in understanding the molecular basis and diagnostic evaluation have paved the way for targeted therapies. However, further research is needed to improve risk assessment and prevention strategies for sudden cardiac death.
Article
Medicine, General & Internal
Gordon S. Huggins, Daniel D. Kinnamon, Garrie J. Haas, Elizabeth Jordan, Mark Hofmeyer, Evan Kransdorf, Gregory A. Ewald, Alanna A. Morris, Anjali Owens, Brian Lowes, Douglas Stoller, W. H. Wilson Tang, Sonia Garg, Barry H. Trachtenberg, Palak Shah, Salpy Pamboukian, Nancy K. Sweitzer, Matthew T. Wheeler, Jane E. Wilcox, Stuart Katz, Stephen Pan, Javier Jimenez, Keith D. Aaronson, Daniel P. Fishbein, Frank Smart, Jessica Wang, Stephen S. Gottlieb, Daniel P. Judge, Charles K. Moore, Jonathan O. Mead, Hanyu Ni, Wylie Burke, Ray E. Hershberger
Summary: In a US cross-sectional study, the estimated prevalence of familial dilated cardiomyopathy (DCM) among probands was high, and there were differences in the risk of DCM among first-degree relatives across different races and ethnicities, with higher risk observed in first-degree relatives of non-Hispanic Black probands.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2022)
Review
Biochemistry & Molecular Biology
Larisa Anghel, Radu Sascau, Ioana Madalina Zota, Cristian Statescu
Summary: Non-ischemic dilated cardiomyopathy is a myocardial disorder characterized by left ventricular dilatation and systolic impairment, posing an increased risk of sudden cardiac death. Predicting patient prognosis is crucial for individualized treatment, and biomarkers may serve as important tools for risk stratification.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Cardiac & Cardiovascular Systems
Upasana Tayal, James S. Ware, Neal K. Lakdawala, Stephane Heymans, Sanjay K. Prasad
Summary: This review provides a practical primer for clinicians on the genetic basis of dilated cardiomyopathy, including the clinical relevance, key genetic concepts, which patients may benefit from genetic testing, common genetic tests performed, how to interpret genetic results, and the clinical applications. Areas for future research in this dynamic field are also discussed.
EUROPEAN HEART JOURNAL
(2021)
Review
Cardiac & Cardiovascular Systems
Upasana Tayal, James S. Ware, Neal K. Lakdawala, Stephane Heymans, Sanjay K. Prasad
Summary: This review provides a practical primer for clinicians on the genetic basis of dilated cardiomyopathy, introducing key concepts, explaining genetic testing, interpretation of results, and clinical applications, as well as highlighting areas for future research in this field.
EUROPEAN HEART JOURNAL
(2021)
Article
Cardiac & Cardiovascular Systems
Xinxin Chen, Jiuhong You, Mei Zhou, Hui Ma, Cheng Huang
Summary: This study aimed to determine the association between serum uric acid (sUA) and creatine phosphokinase (CPK). The results showed a positive relationship between sUA and CPK, and an inverted U-shaped curve in females with a turning point at sUA = 428.3 μmol/L.
BMC CARDIOVASCULAR DISORDERS
(2023)
Article
Biochemistry & Molecular Biology
Jan Haas, Karen S. Frese, Farbod Sedaghat-Hamedani, Elham Kayvanpour, Rewati Tappu, Rouven Nietsch, Oguz Firat Tugrul, Michael Wisdom, Carsten Dietrich, Ali Amr, Tanja Weis, Torsten Niederdraenk, Michael P. Murphy, Thomas Krieg, Marcus Doerr, Uwe Voelker, Jens Fielitz, Norbert Frey, Stephan B. Felix, Andreas Keller, Hugo A. Katus, Benjamin Meder
Summary: This study identified a new set of metabolomic biomarkers for heart failure (HF) through a multi-OMICS approach, revealing underlying biological cascades that potentially represent suitable intervention targets.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cardiac & Cardiovascular Systems
Ming Yu, Beibei Du, Shuai Yao, Jianghong Ma, Ping Yang
Summary: This case report describes a rare manifestation of Von Hippel-Lindau (VHL) syndrome, which presented as congestive heart failure and dilated cardiomyopathy. The patient was diagnosed with VHL syndrome type 2 through genetic analysis and received appropriate treatment. Early diagnosis is crucial for avoiding life-threatening complications associated with VHL, and further research is needed to understand the management of this rare manifestation.
BMC CARDIOVASCULAR DISORDERS
(2022)
Letter
Medicine, General & Internal
Marco Vincenzo Lenti, Maria Giovanna Ferrari, Nicola Aronico, Federica Melazzini, Catherine Klersy, Gino Roberto Corazza, Antonio Di Sabatino
INTERNAL AND EMERGENCY MEDICINE
(2022)
Letter
Gastroenterology & Hepatology
Marco Vincenzo, Sara Cococcia, Emanuela Miceli, Giacomo Carganico, Catherine Klersy, Gino Roberto Corazza, Antonio Di Sabatino
CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY
(2022)
Article
Oncology
Federica Sina, Chiara Cassani, Chiara Comerio, Elena De Ponti, Francesca Zanellini, Martina Delle Marchette, Gaia Roversi, Marta Jaconi, Eloisa Arbustini, Mario Urtis, Cristina Dell'Oro, Benedetta Zambetti, Cristiana Paniga, Eleonora Acampora, Serena Negri, Sara Lazzarin, Stefania Cesari, Arsenio Spinillo, Joanne Kotsopoulos, Robert Fruscio
Summary: The study found that a p53 signature is common in both BRCA1/2 mutation carriers and controls, but pre-invasive and invasive lesions are more common in BRCA1/2 mutation carriers. Genetic and clinical characteristics may influence the progression to malignancy.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
(2022)
Article
Cardiac & Cardiovascular Systems
Luis R. Lopes, Maria-Angela Losi, Nabeel Sheikh, Cecile Laroche, Philippe Charron, Juan Gimeno, Juan P. Kaski, Aldo P. Maggioni, Luigi Tavazzi, Eloisa Arbustini, Dulce Brito, Jelena Celutkiene, Albert Hagege, Ales Linhart, Jens Mogensen, Jose Manuel Garcia-Pinilla, Tomas Ripoll-Vera, Hubert Seggewiss, Eduardo Villacorta, Alida Caforio, Perry M. Elliott
Summary: Common cardiovascular risk factors are associated with a more severe form of hypertrophic cardiomyopathy, suggesting the need for proactive management. There is an interaction between genotype and cardiovascular risk factors in certain traits.
EUROPEAN HEART JOURNAL-QUALITY OF CARE AND CLINICAL OUTCOMES
(2023)
Letter
Hematology
Valentino Dammassa, Alessandra Greco, Rossana Totaro, Costanza Natalia Julia Colombo, Claudia Raineri, Rita Camporotondo, Gaetano Maria De Ferrari, Francesco Mojoli, Eloisa Arbustini, Luigi Oltrona Visconti, Guido Tavazzi
ANNALS OF HEMATOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Mrakic-Sposta Simona, Vezzoli Alessandra, Cova Emanuela, Ticcozzelli Elena, Montorsi Michela, Greco Fulvia, Sepe Vincenzo, Benzoni Ilaria, Meloni Federica, Arbustini Eloisa, Abelli Massimo, Gussoni Maristella
Summary: This study presents a NMR and EPR spectroscopy approach to assess kidney viability and metabolism. The metabolism and oxidative damage of porcine kidney models were examined during organ retrieval, preservation, and transplantation. The results showed higher ROS production and concentration of metabolites in the ex vivo machine perfusion (HMP) group compared to the static cold storage (SCS) group. The HMP group also exhibited better functional recovery after transplantation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Editorial Material
Clinical Neurology
Anna Sarkozy, Rosaline Quinlivan, John P. Bourke, Alessandra Ferlini
NEUROMUSCULAR DISORDERS
(2023)
Article
Genetics & Heredity
Marianna Farne, Fernanda Fortunato, Marcella Neri, Matteo Farne, Cristina Balla, Emilio Albamonte, Andrea Barp, Annarita Armaroli, Enrica Perugini, Valeria Carinci, Marco Facchini, Luca Chiarini, Valeria A. Sansone, Sofia Straudi, Valeria Tugnoli, Elisabetta Sette, Mariachiara Sensi, Matteo Bertini, Teresinha Evangelista, Alessandra Ferlini, Francesca Gualandi
Summary: Telemedicine is an important tool for the management of rare and fragile patients, and is supported by the European Reference Networks (ERNs). TeleNewCARe evaluated the effectiveness and satisfaction of telegenetics for neuromuscular and cardiac adult patients, compared to face-to-face genetic counseling. The study found that telecounseling was just as effective and satisfactory as traditional counseling.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Rachele Rossi, Camilla Johansson, Wendy Heywood, Heloise Vinette, Gabriella Jensen, Hanna Tegel, Albert Jimenez-Requena, Silvia Torelli, Cristina Al-Khalili Szigyarto, Alessandra Ferlini
Summary: Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease caused by pathogenic variations in the DMD gene. Current biomarker for DMD, creatine kinase, lacks specificity and correlation with disease severity. This study presents novel data on the detection of dystrophin protein fragments in human plasma, suggesting the potential of dystrophin protein as a low invasive blood biomarker for DMD diagnostic screening and clinical monitoring.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Fabiana Isabella Gambarin, Massimo Pistono, Ugo Corra
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Francesca Romana Gentile, Enrico Baldi, Catherine Klersy, Sebastian Schnaubelt, Maria Luce Caputo, Christian Clodi, Jolie Bruno, Sara Compagnoni, Alessandro Fasolino, Claudio Benvenuti, Hans Domanovits, Roman Burkart, Roberto Primi, Gerhard Ruzicka, Michael Holzer, Angelo Auricchio, Simone Savastano
Summary: A study found that ECG features can predict the 30-day survival rate of patients after out-of-hospital cardiac arrest. Age >62 years, female sex, QRS wider than 120 ms, the presence of a Brugada pattern, and ST-segment elevation in >1 segment were independently associated with 30-day mortality. By dividing the population into three risk classes based on a score, significant differences in survival rates at 30 days were observed.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Cardiac & Cardiovascular Systems
Francesca Toto, Laura Leo, Catherine Klersy, Tiziano Torre, Thomas Theologou, Alberto Pozzoli, Elena Caporali, Stefanos Demertzis, Enrico Ferrari
Summary: The study evaluated the clinical outcomes and hemodynamic performance of two standard aortic bioprostheses. The results showed that the postoperative outcomes and mid-term follow-up were similar between the Trifecta and Perimount bioprostheses. Although the Trifecta valve showed better hemodynamic performance in the early postoperative period, this advantage did not persist over time. There was no difference in the reoperation rate for structural valve degeneration between the two valves.
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2023)
Article
Cardiac & Cardiovascular Systems
Elena Arbelo, Alexandros Protonotarios, Juan R. Gimeno, Eloisa Arbustini, Roberto Barriales-Villa, Cristina Basso, Connie R. Bezzina, Elena Biagini, Nico A. Blom, Rudolf A. de Boer, Tim De Winter, Perry M. Elliott, Marcus Flather, Pablo Garcia-Pavia, Kristina H. Haugaa, Jodie Ingles, Ruxandra Oana Jurcut, Sabine Klaassen, Giuseppe Limongelli, Bart Loeys, Jens Mogensen, Iacopo Olivotto, Antonis Pantazis, Sanjay Sharma, J. Peter Van Tintelen, James S. Ware, Juan Pablo Kaski
EUROPEAN HEART JOURNAL
(2023)
Letter
Genetics & Heredity
Alessandra Ferlini, Edith Sky Gross, Nicolas Garnier
Summary: The era of genomics medicine has brought numerous benefits to rare diseases. Major breakthroughs have been made in disease gene discovery, bioinformatics innovation, and the development of patient data registries and omics repositories. Rare diseases have also become the first diseases to benefit from nucleic acid-based therapies.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Medicine, General & Internal
Andreas Haeberlin, Fabian Noti, Alexander Breitenstein, Angelo Auricchio, Tobias Reichlin, Giulio Conte, Catherine Klersy, Moreno Curti, Etienne Pruvot, Giulia Domenichini, Beat Schaer, Michael Kuehne, Michal Gruszczynski, Haran Burri, Richard Kobza, Christian Grebmer, Francois D. Regoli, Francesco Pelliccia
Summary: This study analyzed the procedural outcomes of transvenous lead extraction (TLE) during device upgrade, and found that TLE is effective and does not pose a disproportionate risk to the upgrade procedure.
JOURNAL OF CLINICAL MEDICINE
(2023)