Article
Cardiac & Cardiovascular Systems
Aine Lynch, Mark Tatangelo, Sachin Ahuja, Chun-Po Steve Fan, Sandar Min, Myriam Lafreniere-Roula, Tanya Papaz, Vivian Zhou, Kathryn Armstrong, Peter F. Aziz, Lee N. Benson, Ryan Butts, Andreea Dragulescu, Letizia Gardin, Justin Godown, Aamir Jeewa, Paul F. Kantor, Beth D. Kaufman, Ashwin K. Lal, John J. Parent, Marc Richmond, Mark W. Russell, Seshadri Balaji, Elizabeth A. Stephenson, Chet Villa, John L. Jefferies, Robert Whitehill, Jennifer Conway, Taylor S. Howard, Stephanie J. Nakano, Joseph Rossano, Robert G. Weintraub, Seema Mital
Summary: This study compared the transplant-free survival, incidence of sudden cardiac death (SCD), and use of implantable cardioverter-defibrillators (ICDs) between RAS-HCM and P-HCM patients. The results showed that RAS-HCM patients were diagnosed at a younger age compared to P-HCM patients, had a higher incidence of nonarrhythmic deaths or transplants, but a similar incidence of SCD. However, the use of ICDs was lower in RAS-HCM patients compared to P-HCM patients.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2023)
Article
Pediatrics
Fieke Draaisma, Corrie E. Erasmus, Hilde M. H. Braakman, Melanie C. J. Burgers, Erika K. S. M. Leenders, Tuula Rinne, Nens van Alfen, Jos M. T. Draaisma
Summary: This study aimed to describe the findings of high-resolution nerve ultrasound in children with Noonan syndrome (NS) and related disorders experiencing leg pain. The results showed that all four children included in the study exhibited nerve hypertrophy, suggesting a possible association between pain and nerve hypertrophy. The use of high-resolution nerve ultrasound and spinal magnetic resonance imaging may provide a better understanding of the nature of leg pain in patients with NS and related disorders.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Cardiac & Cardiovascular Systems
Jae-Sung Yi, Sravan Perla, Yan Huang, Kana Mizuno, Frank J. Giordano, Alexander A. Vinks, Anton M. Bennett
Summary: Low-dose dasatinib showed linear pharmacokinetic properties in NSML mice, with exposure-dependent inhibition of c-Src and PZR tyrosyl phosphorylation as well as AKT phosphorylation. A dose as low as 0.1 mg/kg of dasatinib prevented HCM in NSML mice and transcriptome analysis identified reversal of HCM-associated gene expression levels in the heart tissue.
CARDIOVASCULAR DRUGS AND THERAPY
(2022)
Review
Pediatrics
Huaiyang Chen, Yingxu Ma, Yefeng Wang, Haiyan Luo, Zhenghui Xiao, Zhi Chen, Qiming Liu, Yunbin Xiao
Summary: Multifocal atrial tachycardia (MAT) is an irregular heart rhythm that can lead to adverse outcomes. The pathogenesis of MAT involves various factors such as heart disease, surgery, pulmonary hypertension, and infectious diseases, which may promote MAT through inflammation and abnormal ion channels. Further research is needed to understand the pathogenesis of MAT.
FRONTIERS IN PEDIATRICS
(2022)
Article
Cardiac & Cardiovascular Systems
Soham Dasgupta, Khayri Shalhoub, Iqbal El-Assaad, Edward O'Leary, Eric N. Feins, John K. Triedman, Edward P. Walsh, John N. Kheir, Audrey Dionne
Summary: This study retrospectively analyzed children aged 0-18 years who underwent cardiac surgery between 2011 and 2018. It found that accelerated junctional rhythm (AJR) and junctional ectopic tachycardia (JET) are common postoperative arrhythmias associated with morbidity and mortality. A risk prediction score was developed to identify high-risk patients for early prophylactic treatment.
Review
Physiology
Alina Scridon
Summary: This review discusses the main mechanisms involved in atrial ectopic activity, including the anatomical and physiological aspects of the cardiac autonomic nervous system, as well as the pathophysiological pathways linking autonomic imbalance and atrial ectopic activity. The emphasis is placed on relevant cardiac neuromodulation strategies, and unanswered questions and hotspots for future research are identified.
FRONTIERS IN PHYSIOLOGY
(2022)
Article
Genetics & Heredity
Michele Lioncino, Adelaide Fusco, Emanuele Monda, Diego Colonna, Michelina Sibilio, Martina Caiazza, Daniela Magri, Angela Carla Borrelli, Barbara D'Onofrio, Maria Luisa Mazzella, Rossella Colantuono, Maria Rosaria Arienzo, Berardo Sarubbi, Maria Giovanna Russo, Giovanni Chello, Giuseppe Limongelli
Summary: Noonan syndrome is a multisystemic disorder caused by germline mutations in the Ras/MAPK cascade. Trametinib has been shown to reverse hypertrophic cardiomyopathy in NS patients, while severe lymphatic abnormalities may contribute to respiratory distress.
Article
Cardiac & Cardiovascular Systems
Maria Hee Jung Park Frausing, Martijn E. Van De Lande, Alexander H. Maass, Bao-Oanh Nguyen, Martin E. W. Hemels, Robert G. Tieleman, Tim Koldenhof, Mirko De Melis, Dominik Linz, Ulrich Schotten, Vanessa Weberndoerfer, Harry J. G. M. Crijns, Isabelle C. Van Gelder, Jens Cosedis Nielsen, Michiel Rienstra
Summary: This study aimed to examine brady- and tachyarrhythmias using continuous rhythm monitoring in patients with paroxysmal self-terminating AF (PAF). The results showed that almost half of the PAF patients experienced severe bradyarrhythmias or rapid ventricular tachyarrhythmias during continuous rhythm monitoring.
Article
Cardiac & Cardiovascular Systems
Leon Dinshaw, Paula Muenkler, Benjamin Schaeffer, Niklas Klatt, Christiane Jungen, Jannis Dickow, Annika Tamenang, Ruben Schleberger, Simon Pecha, Hans Pinnschmidt, Monica Patten, Hermann Reichenspurner, Stephan Willems, Christian Meyer
Summary: Ablation of atrial fibrillation in patients with hypertrophic cardiomyopathy is effective for long-term rhythm control, especially in those with paroxysmal AF undergoing pulmonary vein isolation. Despite a high proportion of patients requiring antiarrhythmic drug therapy post-ablation, a reasonable number of patients achieve freedom from atrial arrhythmias, particularly after persistent AF ablation.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Cardiac & Cardiovascular Systems
Adrien Al Wazzan, Elena Galli, Marion Lacout, Elise Paven, Guillaume L'official, Frederic Schnell, Emmanuel Oger, Erwan Donal
Summary: Echocardiographic evaluation can predict the occurrence of atrial arrhythmia and stroke in patients with hypertrophic cardiomyopathy. Peak left atrial strain is independently associated with events, and its decrease is strongly linked to the risk of stroke.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2023)
Article
Medicine, General & Internal
Ameenathul M. M. Fawzy, Arnaud Bisson, Alexandre Bodin, Julien Herbert, Gregory Y. H. Lip, Laurent Fauchier
Summary: This study investigated the association between atrial fibrillation (AF) and ventricular arrhythmias (VAs) and sudden death in hospitalized patients in France. The results showed that AF patients had significantly higher incidence and risk of VAs and cardiac arrest compared to non-AF patients. This association remained significant after adjusting for confounders, indicating a clear association between AF and VAs and sudden death.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Carlo Mannina, Zhezhen Jin, Kenji Matsumoto, Kazato Ito, Angelo Biviano, Mitchell S. V. Elkind, Tatjana Rundek, Shunichi Homma, Ralph L. Sacco, Marco R. Di Tullio
Summary: In a study on subclinical atrial fibrillation and risk of ischemic stroke, it was found that elderly individuals have a higher frequency of other arrhythmias, with men and hypertensive patients more prone to certain arrhythmias, and differences in arrhythmia frequencies among ethnic groups such as whites, Blacks, and Hispanics.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2021)
Article
Medicine, Research & Experimental
Huaxin Sun, Jie Song, Kai Li, Yao Li, Luxiang Shang, Qina Zhou, Yanmei Lu, Yazhen Zong, Xiuyuan He, Muzappar Kari, Hang Yang, Xianhui Zhou, Ling Zhang, Baopeng Tang
Summary: This study aims to investigate whether (31-AAd plays a role in atrial vulnerable substrate by mediating calcium mishandling and atrial fibrosis in autoimmune-associated atrial fibrillation. The results showed that (31-AAd aggravated atrial electrical instability and fibrosis. Bisoprolol could alleviate the changes in action potential duration, calcium transient duration, and conduction heterogeneity induced by (31-AAd. The study concluded that suppressing (31-AAd effectively protects atrial vulnerable substrate by improving intracellular calcium handling and prevention of autoimmune-associated atrial fibrillation.
Article
Cardiac & Cardiovascular Systems
Hiroyuki Yamamoto, Satoshi Monno, Keiko Ohta-Ogo, Hatsue Ishibashi-Ueda, Toru Hashimoto
Summary: This case report describes a delayed diagnosis of dilated thyrotoxic cardiomyopathy with coexistent MAT, successfully treated with amiodarone. It is the first reported case of TS-associated MAT, highlighting the clinical importance of high suspicion of TS in de novo heart failure with any tachyarrhythmia or DCM of unknown etiology.
BMC CARDIOVASCULAR DISORDERS
(2021)
Article
Cardiac & Cardiovascular Systems
Jonathan Uniat, Allison C. C. Hill, Mark Shwayder, Michael J. J. Silka, Yaniv Bar-Cohen
Summary: This retrospective study analyzed the risk factors and outcomes of ectopic atrial tachycardia (EAT) in infants undergoing congenital heart disease (CHD) surgery from 2007 to 2020. The results showed that total anomalous venous connection (TAPVC) repair, DiGeorge syndrome, longer and more complex surgeries, and longer cardiopulmonary bypass times were independent risk factors for EAT. EAT typically occurred around 9 days after CHD surgery.
PEDIATRIC CARDIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Eric E. Abrahamson, Robert F. Padera, Julie Davies, Gill Farrar, Victor L. Villemagne, Sharmila Dorbala, Milos D. Ikonomovic
Summary: This study demonstrates the high selectivity of cyano-flutemetamol binding to myocardial amyloid in patients with cardiac amyloidosis, supporting the diagnostic utility of [F-18]flutemetamol PET imaging in ATTR and AL types of cardiac amyloidosis.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Emanuele Monda, Giuseppe Limongelli
Article
Multidisciplinary Sciences
Erica Normandin, Melissa Rudy, Nikolaos Barkas, Stephen F. Schaffner, Zoe Levine, Robert F. Padera, Mehrtash Babadi, Shibani S. Mukerji, Daniel J. Park, Bronwyn L. MacInnis, Katherine J. Siddle, Pardis C. Sabeti, Isaac H. Solomon
Summary: By analyzing tissue samples from fatal COVID-19 cases, we found that viral RNA is present in extrapulmonary tissues, and the viral variants identified in different tissues are mostly unique. Patients with a longer disease course had more high-frequency minor variants, including a tissuespecific high-frequency variant in the spike protein. These findings suggest the presence of adaptation and/or compartmentalized infection, providing insights into extrapulmonary COVID-19 symptoms and the potential for viral reservoirs.
NATURE COMMUNICATIONS
(2023)
Article
Cardiac & Cardiovascular Systems
Karen L. Kelly, Peter T. Lin, Cristina Basso, Melanie Bois, L. Maximilian Buja, Stephen D. Cohle, Giulia d'Amati, Emily Duncanson, John T. Fallon, Dennis Firchau, Gregory Fishbein, Carla Giordano, Charles Leduc, Silvio H. Litovsky, Shannon Mackey-Bojack, Joseph J. Maleszewski, Katarzyna Michaud, Robert F. Padera, Stavroula A. Papadodima, Sarah Parsons, Stanley J. Radio, Stefania Rizzo, Susan J. Roe, Maria Romero, Mary N. Sheppard, James R. Stone, Carmela D. Tan, Gaetano Thiene, Allard C. van der Wal, John P. Veinot
Summary: Sudden cardiac death is an unexpected death caused by a cardiac condition, accounting for approximately 15-20% of all deaths. It commonly occurs in older adults with acquired heart disease but can also happen in young individuals due to genetic transmission. Investigation of these deaths is crucial due to the potential impact on other family members and the lack of consistent guidelines for cardiac examination in these cases.
CARDIOVASCULAR PATHOLOGY
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Emanuele Monda, Giuseppe Limongelli
EUROPEAN JOURNAL OF HEART FAILURE
(2023)
Article
Biochemistry & Molecular Biology
Emanuele Monda, Michele Lioncino, Martina Caiazza, Vincenzo Simonelli, Claudia Nesti, Marta Rubino, Alessia Perna, Alfredo Mauriello, Alberta Budillon, Vincenzo Pota, Giorgia Bruno, Antonio Varone, Vincenzo Nigro, Filippo Maria Santorelli, Giuseppe Pacileo, Maria Giovanna Russo, Giulia Frisso, Simone Sampaolo, Giuseppe Limongelli
Summary: This study describes a group of patients with cardiomyopathy caused by neuromuscular diseases or mitochondrial diseases. The clinical phenotype of these patients was described through comprehensive clinical, molecular, and histological characteristics. A multidisciplinary evaluation and genetic testing play a key role in diagnosing these rare diseases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, General & Internal
Tanayott Thaweethai, Sarah E. Jolley, Elizabeth W. Karlson, Emily B. Levitan, Bruce Levy, Grace A. McComsey, Lisa McCorkell, Girish N. Nadkarni, Sairam Parthasarathy, Upinder Singh, Tiffany A. Walker, Caitlin A. Selvaggi, Daniel J. Shinnick, Carolin C. M. Schulte, Rachel Atchley-Challenner, Leora I. Horwitz, Andrea S. Foulkes
Summary: SARS-CoV-2 infection is associated with persistent, relapsing, or new symptoms or other health effects occurring after acute infection, known as postacute sequelae of SARS-CoV-2 infection (PASC), or long COVID. This study developed a definition of PASC based on self-reported symptoms and described the frequencies of PASC across cohorts, vaccination status, and number of infections.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2023)
Article
Pathology
Ali AlJabban, Mark G. Evans, Geoffrey G. Fell, Jack P. Guccione, Robert A. Edwards, Geraldine S. Pinkus, Robert F. Padera, Olga Pozdnyakova, Annette S. Kim
Summary: Autopsy studies on patients with severe COVID-19 have shown the presence of haemophagocytosis in the bone marrow. However, only a small number of patients met the diagnostic criteria for haemophagocytic lymphohistiocytosis (HLH), suggesting that the observed haemophagocytic macrophages in the bone marrow may be indicative of an overall inflammatory state.
JOURNAL OF CLINICAL PATHOLOGY
(2023)
Article
Clinical Neurology
Erica Normandin, Navid Valizadeh, Emily A. Rudmann, Rockib Uddin, Sabrina T. Dobbins, Bronwyn L. MacInnis, Robert F. Padera Jr, Katherine J. Siddle, Jacob E. Lemieux, Pardis C. Sabeti, Shibani S. Mukerji, Isaac H. Solomon
Summary: SARS-CoV-2 variants, including Delta and Omicron, are likely to impact the brain through common neuropathogenic mechanisms, although no viral proteins or RNA were detected in the brain samples. This highlights the importance of studying the neurological effects of different viral strains.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2023)
Article
Pathology
Inga-Marie Schaefer, Adrian Marino-Enriqueza, Mark M. Hammer, Robert F. Padera, Lynette M. Sholl
Summary: Three cases of primary pericardial mesotheliomas without pleural involvement were studied. The findings showed that pericardial mesotheliomas share common morphologic, immunohistochemical, and molecular genetic features with pleural mesothelioma, including genomic inactivation of canonical tumor suppressors. The study also identified BRCA1 loss as a potential contributing factor in a subset of pericardial mesothelioma cases.
Article
Cell Biology
Hugues Allard-Chamard, Naoki Kaneko, Alice Bertocchi, Na Sun, Julie Boucau, Hsiao-Hsuan Kuo, Jocelyn R. Farmer, Cory Perugino, Vinay S. Mahajan, Samuel J. H. Murphy, Katherine Premo, Thomas Diefenbach, Musie Ghebremichael, Grace Yuen, Alekhya Kotta, Zafer Akman, Mathias Lichterfeld, Bruce D. Walker, Xu G. Yu, Masafumi Moriyama, Takashi Maehara, Seiji Nakamura, John H. Stone, Robert F. Padera, Shiv Pillai
Summary: Although therapeutic B cell depletion can resolve inflammation in many diseases, there is still a lack of identification for specific extrafollicular pathogenic B cell subsets in disease lesions. A distinct DN3 B cell subset, marked by IgD-CD27-CXCR5-CD11c-, accumulates in the blood of IgG4-related disease and severe COVID-19. These DN3 B cells prominently accumulate in the affected organs and lung lesions and cluster with CD4+ T cells. This suggests that they may play a role in tissue inflammation and fibrosis in autoimmune fibrotic diseases and COVID-19.
Editorial Material
Cardiac & Cardiovascular Systems
Emanuele Monda, Giuseppe Limongelli
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2023)
Editorial Material
Oncology
Osnat Itzhaki Ben Zadok, Robert Padera, Anju Nohria
JACC: CARDIOONCOLOGY
(2023)
Article
Genetics & Heredity
Martina Caiazza, Alberto Budillon, Emanuele Monda, Giustina Aruta, Augusto Esposito, Francesca Del Vecchio Blanco, Giulio Piluso, Vincenzo Nigro, Gioacchino Scarano, Giuseppe Limongelli
Summary: Ayme-Gripp Syndrome (AGS) is a rare syndrome characterized by peculiar facial traits combined with early bilateral cataracts, sensorineural hearing loss, and variable neurodevelopmental abnormalities. This paper reports the first case of a 6-year-old girl with AGS who displayed a milder phenotype with no cataracts and deafness. The study also includes a systematic review of previously published cases, focusing on clinical manifestation and genotype.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Letter
Cardiac & Cardiovascular Systems
Emanuele Monda, Giuseppe Limongelli