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Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults. Cardiac involvement is reported in 80% of cases and includes conduction disturbances, arrhythmias, subclinical diastolic and systolic dysfunction in the early stage of the disease; in contrast, severe ventricular systolic dysfunction occurs in the late stage of the disease. Echocardiography is recommended at the time of diagnosis with periodic revaluation in DM1 patients, regardless of the presence or absence of symptoms. Data regarding the echocardiographic findings in DM1 patients are few and conflicting. This narrative review aimed to describe the echocardiographic features of DM1 patients and their prognostic role as predictors of cardiac arrhythmias and sudden death.
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http://dx.doi.org/10.3390/jcm12051947 | DOI Listing |
Asia Pac J Clin Oncol
September 2025
Roche Products India Pvt. Ltd, Mumbai, India.
Introduction: Trastuzumab emtansine (T-DM1), an antibody-drug conjugate, targets tumor cells overexpressing human epidermal growth factor receptor 2 (HER2). This single-arm, phase IV study assessed the safety and efficacy of T-DM1 in Indian patients with HER2-positive, locally advanced, or metastatic breast cancer previously treated with trastuzumab and a taxane.
Methods: Patients received T-DM1 (3.
Brain Commun
August 2025
Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.
Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disorder characterized by muscle weakness, atrophy and myotonia, with multi-system involvement. Recent studies have highlighted the pathological heterogeneity within the CNS of DM1 patients, particularly significant changes in spinal transcriptome expression and alternative splicing. In this study, we conducted a comprehensive transcriptome analysis of the spinal cord in the muscle-specific DM1 mouse model and their wild-type controls across different life stages: young, adult and old age.
View Article and Find Full Text PDFJ Cancer Res Ther
September 2025
Department of Medical Oncology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China.
Background: The advent of anti-HER2 agents, such as trastuzumab, pertuzumab, and trastuzumab emtansine (T-DM1), has significantly improved survival in metastatic HER2-positive breast cancer (BC). Multiple anti-HER2 combination regimens are recommended as first-line treatments, but the optimal choice remains unclear. This study aimed to determine the optimal first-line regimen for metastatic HER2-positive BC through a network meta-analysis of clinical trial data.
View Article and Find Full Text PDFMol Ther Nucleic Acids
September 2025
Molecular Cardiology Laboratory, IRCCS Policlinico San Donato, San Donato Milanese, Milan 20097, Italy.
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by expanded CTG repeats in the 3'-UTR of the gene that lead to nuclear foci accumulation and splicing defects. Circular RNAs (circRNAs) are emerging regulators of muscular disorders, but their role in DM1 remains largely unknown. By analyzing available RNA-sequencing datasets from DM1 patients, followed by validation in patients and matching control muscle biopsies, we identified seven circRNAs that were significantly increased in DM1 muscles and displayed high circular-to-linear isoform ratios.
View Article and Find Full Text PDFCureus
July 2025
Internal Medicine, National Center for Geriatrics and Gerontology, Obu, JPN.
Myotonic dystrophy type 1 (DM1) is a multisystem autosomal dominant disorder primarily characterized by myotonia and distal muscle weakness. Central nervous system (CNS) involvement, including cognitive, executive, and emotional dysfunctions, is increasingly being recognized; however, language impairment as an initial presentation is rare. A 50-year-old right-handed woman with a six-month history of progressive word-finding difficulty, vague speech, and social withdrawal was referred for evaluation.
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