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Incidence and Impact of Myocarditis in Genetic Cardiomyopathies: Inflammation as a Potential Therapeutic Target.
Genes (Basel)
January 2025
Institute of Clinical Medicine, V.N. Vinogradov Faculty Therapeutic Clinic, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia.
Background: Myocardial disease is an important component of the wide field of cardiovascular disease. However, the phenomenon of multiple myocardial diseases in a single patient remains understudied.
Aim: To investigate the prevalence and impact of myocarditis in patients with genetic cardiomyopathies and to evaluate the outcomes of myocarditis treatment in the context of cardiomyopathies.
Unraveling the Genetic Heartbeat: Decoding Cardiac Involvement in Duchenne Muscular Dystrophy.
Biomedicines
January 2025
Thoracic-Cardiovascular Department, Azienda Ospedaliero-Universitaria Maggiore della Carità, 28100 Novara, Italy.
Cardiomyopathy represents the most important life-limiting condition of Duchenne muscular dystrophy (DMD) patients after the age of 20. Genetic alterations in the DMD gene result in the absence of functional dystrophin protein, leading to skeletal/cardiac muscle impairment. The DMD incidence is one in 5000 live male births.
View Article and Find Full Text PDFA single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and/or isolated left ventricular dilatation in the Emilia Romagna region of Italy.
Int J Cardiol
January 2025
Medical Genetics Unit, Romagna Agency of Health, Italy.
Background: non-syndromic dilated cardiomyopathy (DCM) is found to correlate with a genetic cause in 30-40 % of cases. The identification of a causative gene variant can guide treatment options and cascade testing of at-risk family members. Cardiomyopathy multigene panels are routinely used to identify the genetic cause, but often detect variants of uncertain significance (VUS).
View Article and Find Full Text PDFExploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic Counseling.
Clin Genet
January 2025
Sorbonne Université- DMU BioGem-Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Service de Biochimie Métabolique, APHP-Hôpital Universitaire Pitié Salpêtrière, Paris, France.
Titin truncating variants (TTNtv) are the main genetic cause of dilated cardiomyopathies (DCMs). The phenotype and prognosis of probands have been evaluated in several large cohorts. However, few data are available on intrafamilial expressivity.
View Article and Find Full Text PDFThe deubiquitinase USP5 prevents accumulation of protein aggregates in cardiomyocytes.
Sci Adv
January 2025
Department of Cardiac Development and Remodeling, Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany.
Protein homeostasis is crucial for maintaining cardiomyocyte (CM) function. Disruption of proteostasis results in accumulation of protein aggregates causing cardiac pathologies such as hypertrophy, dilated cardiomyopathy (DCM), and heart failure. Here, we identify ubiquitin-specific peptidase 5 (USP5) as a critical determinant of protein quality control (PQC) in CM.
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