Results 191 to 200 of about 19,870 (257)

Autoantibodies in Patients With Arrhythmogenic Cardiomyopathy Activate GSK‐3β, Resulting in a Loss of Cardiomyocyte Cohesion

Acta Physiologica, Volume 242, Issue 7, July 2026.
ABSTRACT Background Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac desmosome disease, as more than 50% of affected patients carry pathogenic variants in desmosome protein‐coding genes. In this study, we focused on the role and mechanisms of pathogenic and non‐pathogenic autoantibodies against intercalated disc (ICD) proteins such as ...
Soumyata Pathak, Konstanze Stangner, Ellen Kempf, Sina Moztarzadeh, Matthias Hiermaier, Stephanie Wider, Marlene Rauschmayer, Tatjana Williams, Andreas Stengl, Brenda Gerull, Ruth Biller, Sebastian Clauss, Stefan Kääb, Tomo Šarić, Sunil Yeruva, Jens Waschke   +15 more
wiley   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Evaluation of the Utility of Baseline Echocardiogram in Patients With Standard Risk Precursor B‐Lymphoblastic Leukemia

Pediatric Blood &Cancer, Volume 73, Issue 6, June 2026.
ABSTRACT Background A routine baseline echocardiogram is often obtained prior to anthracycline administration in children with cancer. The utility of baseline echocardiogram is unclear in patients with standard risk B‐cell acute lymphoblastic leukemia (SR B‐ALL) as their anthracycline cumulative dose is low.
Ziyad Alrajhi, Alice Pozza, Luc Mertens, Adam Paul Yan, Sarah Alexander   +4 more
wiley   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1129-1140, June 2026.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1222-1230, June 2026.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Long‐Term Outcomes of Reduced‐Intensity Conditioning Hematopoietic Stem Cell Transplantation for Patients With Systemic Sclerosis With Impaired Cardiac Function

Arthritis &Rheumatology, Volume 78, Issue 6, Page 1294-1305, June 2026.
Objective High‐intensity conditioning autologous hematopoietic stem cell transplantation (AHSCT) is standard of care for patients with advanced systemic sclerosis (SSc). The role of reduced‐intensity conditioning (RIC) before AHSCT in this population remains unclear.
Yonatan Lean, Carrie Richardson, Anthony J. Esposito, Katy Bedjeti, George E. Georges   +4 more
wiley   +1 more source

The Heart of the Thymus: A Rare Tale of Nonischemic Cardiomyopathy in the Absence of Myasthenia Gravis

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Thymomas are rare epithelial tumors of the anterior mediastinum known for their association with autoimmune and paraneoplastic syndromes, most notably myasthenia gravis (MG). Cardiomyopathy is an exceptionally rare paraneoplastic manifestation.
Manish Barman, Bassem Al Hariri, Tasneem Babiker, Mohamed Gadkarem, Joudi Alhariri, Ahmad Alharafsheh   +5 more
wiley   +1 more source

New‐Onset Acute Heart Failure With Reduced Ejection Fraction Associated With Severe Microcytic Anemia

Clinical Case Reports, Volume 14, Issue 6, June 2026.
Graphical abstract summarizing a case of new‐onset HFrEF associated with profound microcytic anemia, highlighting severe anemia as a potential reversible trigger of acute cardiac decompensation. ABSTRACT Severe microcytic anemia may serve as a potentially reversible precipitating factor in heart failure with reduced ejection fraction (HFrEF). This case
Annabel Ricci, Cassandra Hunt, Chabelly Gomez, Gerson Santafe, Aimee Gonzalez, Martha Duarte   +5 more
wiley   +1 more source

Takotsubo Syndrome Mimicking Apical Hypertrophic Cardiomyopathy: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
Graphical abstract showing possible clinical findings in Takotsubo syndrome and apical hypertrophic cardiomyopathy. ABSTRACT Takotsubo syndrome (TTS) is a reversible form of cardiomyopathy that is triggered by emotional or physical stress, leading to a typical image of apical ballooning.
Benjamin Vögeli, Recep Ali Hacialioglu, Bilal Cevik, Julian Flury, Alvin Oliver Payus, Nisha Arenja   +5 more
wiley   +1 more source

Rate Versus Rhythm Control in a Multimorbid Patient With Tachy–Brady Syndrome: Evaluation of Clinical Outcomes and Pacing Dependency

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT This case report describes a 77‐year‐old man with multiple comorbidities, including atrial fibrillation, heart failure with mildly reduced ejection fraction, hypertension, diabetes mellitus, and prior coronary artery bypass grafting, who presented with severe hypertension and dyspnoea.
Reem Fakak, Emma Nordahl, Joseph Moutiris   +2 more
wiley   +1 more source