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The same variants in sarcomeric genes can lead to different cardiomyopathies within the same family. This gave rise to the concept of a continuum of sarcomeric cardiomyopathies. However, the manifestations and evolution of these cardiomyopathies in pathogenic variant carriers, including members of the same family, remains poorly understood. We present a case of familial sarcomeric cardiomyopathy caused by heterozygous truncating pathogenic variant p.Q1233* in cardiac myosin-binding protein C () gene. The proband was first diagnosed with restrictive cardiomyopathy combined with left ventricular noncompaction (LVNC) and sarcoidosis at the age of 64. The predominantly restrictive phenotype of cardiomyopathy is considered to be a result of interaction between LVNC and sarcoid myocarditis. His 39-year-old son and 35-year-old daughter have identical non-obstructive asymmetric hypertrophic cardiomyopathy. The risk of sudden cardiac death in the son is high due to myocardial fibrosis, ischemia and nonsustained VT. We assume that both phenotypes in the family may have originally been different or there may have been a gradual transformation of the hypertrophic phenotype into LVNC. Myocarditis is regarded as an important epigenomic modifier of sarcomeric cardiomyopathy. In the proband and his son, cardioverter-defibrillators were implanted, and the proband experienced appropriate shocks due to ventricular tachycardia/fibrillation. The proband was also treated with corticosteroids. His death at the age of 69 years occurred due to acute gastric hemorrhage accompanied by progressive heart failure. This report confirms the concept of the phenotypic continuum of sarcomeric cardiomyopathies and describes possible phenotypic patterns and their transformation over time.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407345 | PMC |
http://dx.doi.org/10.3390/genes13081344 | DOI Listing |
Lung India
January 2025
Department of Pulmonary Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Dhanvantari Nagar, Puducherry, India.
Background: The estimated incidence of pulmonary embolism (PE) is around 60-70 cases per 100,000 people annually. The overall mortality rate for massive PE is substantial, ranging from 18% to 65%. We can utilise changes in lung perfusion to stratify patients with PE acutely based on risk, highlighting its diagnostic and prognostic value.
View Article and Find Full Text PDFMol Cell Biochem
December 2024
Henan Key Laboratory of Medical Tissue Regeneration, Xinxiang Medical University, Henan Xinxiang, 453003, People's Republic of China.
To investigate the promoting effect of extracellular vesicles derived from myocardial cells (CM-EVs) on the reprogramming of cardiac fibroblasts (CFs) into cardiomyocyte-like cells (iCMs) and their therapeutic effect on myocardial infarction (MI) in rats. Cell experiments: The differential adhesion method was used to obtain Sprague Dawley (SD) suckling rat CFs and cardiomyocytes (CMs), while the ultracentrifugation method was used to obtain CM-EVs. Transmission electron microscopy and nanoparticle tracking technology were used to analyze and determine the morphology and particle size of CM-EVs.
View Article and Find Full Text PDFCardiovasc Revasc Med
December 2024
Department of Cardiology, Angiology, Haemostaseology and Medical Intensive Care, University Medical Centre Mannheim, Medical Faculty Mannheim, Heidelberg University, Germany. Electronic address:
Objective: The study investigates long-term outcomes of unselected inpatients undergoing invasive coronary angiography (CA) with and without diabetes mellitus type II (T2DM).
Background: Due to continual shifts in demographics and advancements in treating cardiovascular disease, there has been a notable evolution in the types of patients undergoing CA over the past decades. Comprehensive data on the extended outcomes of CA patients, both with and without concurrent T2DM, remains scarce.
Clin Infect Dis
December 2024
Division of Public Health, Infectious Diseases and Occupational Medicine, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA.
A distinction between infections of left ventricular assist devices (LVADs) and cardiac implantable electronic devices (CIEDs) is warranted as they differ markedly in incidence, microbiologic profiles, clinical presentations, and extraction feasibility. These differences necessitate tailored suppressive antibiotic therapy (SAT) strategies. This commentary highlights the need for device-specific SAT approaches.
View Article and Find Full Text PDFCatheter Cardiovasc Interv
December 2024
Department of Structural Heart Disease, National Center for Cardiovascular Disease, China & Fuwai Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Background: Mitral valve transcatheter edge-to-edge repair (M-TEER) was initially indicated for central degenerative mitral regurgitation (DMR) lesions, but advancements in technology have enabled successful treatment in an increasing number of noncentral DMR patients.
Aims: This study aims to compare procedural outcomes and prognosis between noncentral DMR patients, outside clinical trial anatomical criteria, and central DMR patients undergoing M-TEER.
Methods: Drug-refractory moderate-to-severe DMR patients treated with M-TEER at Fuwai Hospital from January 2021 to February 2024 were retrospectively analyzed.
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