Results 81 to 90 of about 14,748 (188)

Mouse models in Arrhythmogenic Right Ventricular Cardiomyopathy

Frontiers in Physiology, 2012
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disorder characterized by fibrofatty replacement of cardiomyocytes. The cardinal manifestations are arrhythmias, sudden cardiac death and seldom heart failure.
Elisabeth M Lodder, Stefania eRizzo
doaj   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1807-1813, August 2026.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Genotype-phenotype correlations in patients with pathogenic/likely pathogenic titin variants from the Swiss Arrhythmogenic Cardiomyopathy Registry

Open Heart
Background Truncating variants in the titin gene (TTNtv) are associated with cardiomyopathy, mainly dilated cardiomyopathy (DCM). The clinical presentation and outcomes of arrhythmogenic phenotypes in these patients are scarcely studied.Methods and ...
Andreas J Flammer, Lorraine Sazgary, Robert Manka, Annina Salome Vischer, Ardan M Saguner, Frank Ruschitzka, Marina Rieder, Siv Fokstuen, Firat Duru, Umberto Maccio, Argelia Medeiros-Domingo, Corinna Brunckhorst, Felix Tanner, Verena Charlotte Wilzeck, Nina Alissa Schätti, Matthias P. Nägele, Fran Mikulicic, Christian Grebmer, Katja E Odening, Nicole R Bonetti   +19 more
doaj   +1 more source

Unveiling New Insights: Reinterpreting DES Mutation, p.Arg383His, Through a Study of an Iranian Family With Isolated Hypertrophic Cardiomyopathy, Implication for Phenotype–Genotype Correlation Analysis

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Desmin, a crucial intermediate filament in muscle cells, maintains structural integrity in cardiac muscle and provides stability to striated muscle cells. Mutations in the DES gene lead to desminopathies, causing diverse cardiac and skeletal myopathies.
Saeideh Kavousi, Farzad Kamali, Bahareh Rabbani, Mehrdad Behmanesh, Nejat Mahdieh, Mehrdad Noruzinia   +5 more
wiley   +1 more source

Miocardiopatia arritmogénica do ventrículo direito. Contribuição de diferentes técnicas de eletrocardiografia

Revista Portuguesa de Cardiologia, 2014
Resumo: A miocardiopatia arritmogénica do ventrículo direito – também denominada de displasia arritmogénica do ventrículo direito – é uma patologia em que se verifica a substituição do miocárdio por tecido fibroso ou fibroadiposo predominantemente no ...
Davide Moreira, Anne Delgado, Bruno Marmelo, Emanuel Correia, Pedro Gama, João Pipa, Luís Nunes, Oliveira Santos   +7 more
doaj   +1 more source

Desmin Mutations and Arrhythmogenic Right Ventricular Cardiomyopathy

The American Journal of Cardiology, 2013
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease characterized by fibrofatty replacement of the myocardium and ventricular arrhythmias, associated with mutations in the desmosomal genes. Only a missense mutation in the DES gene coding for desmin, the intermediate filament protein expressed by cardiac and ...
Lorenzon A, BEFFAGNA, GIORGIA, BAUCE, BARBARA, De Bortoli M, Li Mura IE, Calore M, Dazzo E, BASSO, CRISTINA, NAVA, ANDREA, THIENE, GAETANO, RAMPAZZO, ALESSANDRA   +10 more
openaire   +2 more sources

Myocardial Lipid Metabolism Imbalance: The Pathological Core and Novel Diagnostic‐Therapeutic Directions of Cardiovascular Diseases

Journal of Biochemical and Molecular Toxicology, Volume 40, Issue 8, August 2026.
In cardiac cells, Plin5/AMPK regulate lipid homeostasis; excess CD36‐mediated uptake drives lipotoxicity, mitochondrial dysfunction, and CVDs (e.g., heart failure). Biomarkers (ApoB/ApoA‐1) and therapies (SGLT2 inhibitors) target this cascade. ABSTRACT Cardiac lipid metabolism is fundamental to myocardial energy homeostasis, with fatty acid oxidation ...
Peiyun Xie, Qun Zeng, Hongrui Wang, Meihua She   +3 more
wiley   +1 more source

Carvajal syndrome: a brief overview and clinical case of cardiomyopathy, associated with compound heterozygous mutations of the desmoplakin gene

Российский кардиологический журнал, 2018
Mutations in the genes encoding desmosomal proteins cause a wide range of diseases associated with abnormalities of the skin, hair and heart. In 45-50% these mutations determine the development of arrhythmogenic right ventricular cardiomyopathy.
T. G. Vaikhanskaya, L. N. Sivitskaya, T. V. Kurushko, D. P. Ermakovich, E. V. Zasim, N. G. Danilenko   +5 more
doaj   +1 more source

Catheter Ablation Outcomes in Electrical Storm Versus Non–Electrical Storm Ventricular Tachycardia: A Systematic Review and Meta‐Analysis

Journal of Arrhythmia, Volume 42, Issue 4, August 2026.
Catheter ablation for ventricular tachycardia showed comparable acute procedural success and complication rates in patients with and without electrical storm. However, electrical storm was associated with higher in‐hospital mortality, long‐term mortality, and ventricular tachycardia recurrence, supporting its role as a marker of adverse prognosis ...
Ahmad Jalil, Fatima Rajab, Xuan Li, Abdulgafar Ibrahim, Arundhati Sawant, Michael Bashir, Varshitha Bandi, Karan Bhatt, Smit Mehta, Bilal Abaid, Arthur Alencar, Mahmoud Gomaa, Muhammad Afzal   +12 more
wiley   +1 more source

Diagnostic Accuracy of Electrocardiographic Criteria in Differentiating Arrhythmogenic Right Ventricular Cardiomyopathy From Idiopathic Outflow Tract Ventricular Arrhythmia: A Systematic Review and Meta‐Analysis

Journal of Arrhythmia, Volume 42, Issue 4, August 2026.
ECG parameters, particularly depolarization‐based markers, demonstrate high specificity for differentiating ARVC from idiopathic outflow tract arrhythmias. A multi‐marker ECG approach may facilitate accessible early screening and clinical decision‐making, particularly in settings with limited access to advanced imaging.
Erika Maharani, Lucia Kris Dinarti, Dyah Wulan Anggrahini, Abida Hasna Laila, Nisrina Maulida Rozanti, Yoga Yuniadi   +5 more
wiley   +1 more source