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The N-Terminal Mutations of cMyBP-C Affect Calcium Regulation, Kinetics, and Force of Muscle Contraction.
Int J Mol Sci
December 2024
Institute of Immunology and Physiology, Russian Academy of Sciences, 620049 Yekaterinburg, Russia.
The cardiac myosin binding protein-C (cMyBP-C) regulates cross-bridge formation and controls the duration of systole and diastole at the whole heart level. As known, mutations in cMyBP-C increase the cross-bridge number and rate of their cycling, hypercontractility, and myocardial hypertrophy. We investigated the effects of the mutations D75N and P161S of cMyBP-C related to hypertrophic cardiomyopathy on the mechanism of force generation in isolated slow skeletal muscle fibers.
View Article and Find Full Text PDFAnderson-Fabry Disease: Focus on Ophthalmological Implications.
Life (Basel)
November 2024
Rare, Degenerative and Inflammatory Ocular Diseases Unit, Department of Sense Organs, La Sapienza University, Viale del Policlinico 155, 00161 Rome, Italy.
Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a broad spectrum of clinical manifestations, including severe complications, such as end-stage renal disease, hypertrophic cardiomyopathy, and cerebrovascular disease. Enzyme replacement therapy (ERT), when initiated early, has been shown to reduce the incidence of severe events and slow disease progression. In the classic form, characterized by the absence of α-galactosidase A (α-Gal A) enzyme activity, diagnosis is straightforward.
View Article and Find Full Text PDFTrans-Coronary Sinus Intra-Septal Radiofrequency Ablation (TIRA) for Hypertrophic Obstructive Cardiomyopathy: First-in-Human Results.
Biomedicines
December 2024
Department of Internal Medicine, Pusan National University School of Medicine and Cardiology, Cardiovascular Center and Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan 50612, Republic of Korea.
Background: Current treatments for hypertrophic obstructive cardiomyopathy (HOCM), including medication, surgery, and alcohol septal ablation (ASA), have limitations in terms of efficacy and safety. To address these challenges, we developed the trans-coronary intra-septal radiofrequency ablation (TIRA) device.
Methods: This first-in-human trial was conducted to assess the efficacy and safety of the TIRA device.
Hypertrophic Cardiomyopathy with Special Focus on Mavacamten and Its Future in Cardiology.
Biomedicines
November 2024
Department of Nephrocardiology, Medical University of Lodz, ul. Zeromskiego 113, 90-549 Lodz, Poland.
Hypertrophic cardiomyopathy (HCM) is a heterogeneous group of heart muscle disorders that affects millions, with an incidence from 1 in 500 to 1 in 200. Factors such as genetics, age, gender, comorbidities, and environmental factors may contribute to the course of this disease. Diagnosis of HCM has improved significantly in the past few decades from simple echocardiographic evaluations to a more complex, multimodal approach embracing advanced imaging, genetic, and biomarker studies.
View Article and Find Full Text PDFMultiple Red Flags of Cardiac Amyloidosis in a Single Patient: Clinical Manifestations of an Underdiagnosed Disease.
Diagnostics (Basel)
December 2024
Department of Invasive Cardiology, Medical University of Białystok, 15-089 Białystok, Poland.
Cardiac transthyretin amyloidosis is an underdiagnosed disorder with significant diagnostic difficulties due to its non-specific clinical manifestations. It is caused by the deposition of protein aggregates with an abnormal tertiary structure in the extracellular matrix. Their accumulation leads to the development of hypertrophic and restrictive cardiomyopathy and, at a later stage, heart failure with preserved ejection fraction syndrome.
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