keyword
https://read.qxmd.com/read/38361607/sleep-fragmentation-induces-heart-failure-in-a-hypertrophic-cardiomyopathy-mouse-model-by-altering-redox-metabolism
#21
JOURNAL ARTICLE
Karthikeyan Bose, Radhika Agrawal, Thiagarajan Sairam, Jessenya Mil, Matthew P Butler, Perundurai S Dhandapany
Sleep fragmentation (SF) disrupts normal biological rhythms and has major impacts on cardiovascular health; however, it has never been shown to be a risk factor involved in the transition from cardiac hypertrophy to heart failure (HF). We now demonstrate devastating effects of SF on hypertrophic cardiomyopathy (HCM). We generated a transgenic mouse model harboring a patient-specific myosin binding protein C3 (MYBPC3) variant displaying HCM, and measured the progression of pathophysiology in the presence and absence of SF...
March 15, 2024: IScience
https://read.qxmd.com/read/38337535/advances-in-multi-modality-imaging-in-hypertrophic-cardiomyopathy
#22
REVIEW
Fraser C Goldie, Matthew M Y Lee, Caroline J Coats, Sabrina Nordin
Hypertrophic cardiomyopathy (HCM) is characterized by abnormal growth of the myocardium with myofilament disarray and myocardial hyper-contractility, leading to left ventricular hypertrophy and fibrosis. Where culprit genes are identified, they typically relate to cardiomyocyte sarcomere structure and function. Multi-modality imaging plays a crucial role in the diagnosis, monitoring, and risk stratification of HCM, as well as in screening those at risk. Following the recent publication of the first European Society of Cardiology (ESC) cardiomyopathy guidelines, we build on previous reviews and explore the roles of electrocardiography, echocardiography, cardiac magnetic resonance (CMR), cardiac computed tomography (CT), and nuclear imaging...
February 1, 2024: Journal of Clinical Medicine
https://read.qxmd.com/read/38334670/filamin-c-deficiency-impairs-sarcomere-stability-and-activates-focal-adhesion-kinase-through-pdgfra-signaling-in-induced-pluripotent-stem-cell-derived-cardiomyocytes
#23
JOURNAL ARTICLE
Shanshan Gao, Lingaonan He, Chi Keung Lam, Matthew R G Taylor, Luisa Mestroni, Raffaella Lombardi, Suet Nee Chen
Truncating mutations in filamin C ( FLNC ) are associated with dilated cardiomyopathy and arrhythmogenic cardiomyopathy. FLNC is an actin-binding protein and is known to interact with transmembrane and structural proteins; hence, the ablation of FLNC in cardiomyocytes is expected to dysregulate cell adhesion, cytoskeletal organization, sarcomere structural integrity, and likely nuclear function. Our previous study showed that the transcriptional profiles of FLNC homozygous deletions in human pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) are highly comparable to the transcriptome profiles of hiPSC-CMs from patients with FLNC truncating mutations...
February 2, 2024: Cells
https://read.qxmd.com/read/38311799/recurring-homozygous-actn2-variant-p-arg506gly-causes-a-recessive-myopathy
#24
JOURNAL ARTICLE
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bönnemann
OBJECTIVE: ACTN2, encoding alpha-actinin-2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic variants were reported as a rare cause of core myopathy of variable clinical onset, although the pathomechanism remains to be elucidated. The possibility of a recessively inherited ACTN2-myopathy has also been proposed in a single series. METHODS: We provide clinical, imaging, and histological characterization of a series of patients with a novel biallelic ACTN2 variant...
February 4, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38309622/towards-etiological-treatments-in-cardiomyopathies
#25
JOURNAL ARTICLE
Olivier Lairez, Pauline Fournier, Romain Itier, Bérengère Bachelet, Antoine Huart, Eve Cariou
This review proposes to look at the evolution of cardiomyopathy treatments in the light of advances in diagnostic techniques, which have enabled to move from a mechanistic to a phenotypic and then etiological approach. The article goes beyond the ejection fraction approach, and look at new therapies that target the pathophysiological pathways of cardiomyopathies, either by targeting the phenotype, or by targeting the etiology. The evolution of HCM treatments is detailed, culminating in the latest etiological treatments such as mavacamten in sarcomeric HCM, tafamidis in transthyretin cardiac amyloidosis and migalastat in Fabry disease...
February 1, 2024: La Presse Médicale
https://read.qxmd.com/read/38299392/expression-of-circulating-mir-21-and-29-and-their-association-with-myocardial-fibrosis-in-hypertrophic-cardiomyopathy
#26
JOURNAL ARTICLE
Andreas Angelopoulos, Evangelos Oikonomou, Alexios Antonopoulos, Panagiotis Theofilis, Konstantinos Zisimos, Ourania Katsarou, Maria Gazouli, George Lazaros, Paraskevi Papanikolaou, Gerasimos Siasos, Dimitrios Tousoulis, Konstantinos Tsioufis, Charalambos Vlachopoulos
BACKGROUND: Hypertrophic Cardiomyopathy (HCM) is characterized by myocardial hypertrophy, fibrosis, and sarcomeric disarray. OBJECTIVE: To evaluate the expression levels of circulating miR-21 and -29 in patients with HCM and their association with clinical characteristics and myocardial fibrosis. METHODS: In this case-control study, 27 subjects with HCM, 13 subjects with hypertensive cardiomyopathy, and 10 control subjects were enrolled. Evaluation of patients' functional capacity was made by the six-minute walk test...
January 30, 2024: Current Medicinal Chemistry
https://read.qxmd.com/read/38299365/lncrna-chkb-dt-downregulation-enhances-dilated-cardiomyopathy-through-aldh2
#27
JOURNAL ARTICLE
Xiang Nie, Jiahui Fan, Beibei Dai, Zheng Wen, Huaping Li, Chen Chen, Dao Wen Wang
BACKGROUND: Human cardiac long noncoding RNA (lncRNA) profiles in patients with dilated cardiomyopathy (DCM) were previously analyzed, and the long noncoding RNA CHKB (choline kinase beta) divergent transcript (CHKB-DT) levels were found to be mostly downregulated in the heart. In this study, the function of CHKB-DT in DCM was determined. METHODS: Long noncoding RNA expression levels in the human heart tissues were measured via quantitative reverse transcription-polymerase chain reaction and in situ hybridization assays...
February 16, 2024: Circulation Research
https://read.qxmd.com/read/38296631/childhood-onset-hypertrophic-cardiomyopathy-caused-by-thin-filament-sarcomeric-variants
#28
JOURNAL ARTICLE
Gabrielle Norrish, Marisa Gasparini, Ella Field, Elena Cervi, Juan Pablo Kaski
Up to 20% of children with sarcomeric hypertrophic cardiomyopathy (HCM) have disease-causing variants in genes coding for thin-filament proteins. However, data on genotype-phenotype correlations for thin-filament disease are limited. This study describes the natural history and outcomes of children with thin-filament-associated HCM and compares it to thick-filament-associated disease.Longitudinal data were collected from 40 children under 18 years with a disease-causing variant in a thin-filament protein from a single quaternary referral centre...
January 31, 2024: Journal of Medical Genetics
https://read.qxmd.com/read/38293186/rare-actn2-frameshift-variants-resulting-in-protein-extension-cause-distal-myopathy-and-hypertrophic-cardiomyopathy-through-protein-aggregation
#29
Johanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, Jaakko Sarparanta, Johanna Palmio, Giorgio Tasca, Mario Sabatelli, Cédric Yvorel, Ines Harzallah, Renaud Touraine, Lynn Pais, Christina A Austin-Tse, Vijay Ganesh, Melanie C O'Leary, Heidi L Rehm, Michael K Hehir, Sub Subramony, Qian Wu, Bjarne Udd, Marco Savarese
UNLABELLED: Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of muscle fibers that begins in the distal parts of arms and legs. Recently, variants in a new disease gene, ACTN2 , have been shown to cause distal myopathy. ACTN2 , a gene previously only associated with cardiomyopathies, encodes alpha-actinin-2, a protein expressed in both cardiac and skeletal sarcomeres. The primary function of alpha-actinin-2 is to link actin and titin to the sarcomere Z-disk...
January 17, 2024: medRxiv
https://read.qxmd.com/read/38288204/apical-hypertrophic-cardiomyopathy-a-fatal-yet-underappreciated-variant-of-hypertrophic-cardiomyopathy
#30
Sherif Eltawansy, Lauren Klei, Steven Imburgio, Megan Decker, Ndausung Udongwo, Anas Alrefaee, Anton Mararenko, Nelson Lamarche
Hypertrophic cardiomyopathy (HCM) is a group of diseases affecting the left ventricle heart muscle that share a common feature of left ventricular hypertrophy without associated cardiac or systemic disorder. It was found to have a genetic basis with autosomal dominant mutations in the sarcomeric protein genes. Apical HCM is a rare subtype and underappreciated variant of HCM that primarily affects the apex of the heart. Apical HCM is dissimilar to classic HCM, with more challenges in diagnosis and inconsistent clinical course than other types...
December 2023: Curēus
https://read.qxmd.com/read/38279754/arrhythmias-and-hypertrophic-cardiomyopathy-unravelling-the-connection
#31
JOURNAL ARTICLE
Kanishk Aggarwal, Sri Pranvi Boyapati, Jayesh Valecha, Amna Noor, Fnu Kanwal, Rohit Jain, Sai Gautham Kanagala
Hypertrophic cardiomyopathy (HCM) results from gene mutations affecting cardiac sarcomeres and is inherited in an autosomal dominant manner. With a prevalence of 1:200-1:500 in the general population, HCM is characterised by a hypertrophied and non-dilated left ventricle with predominant involvement of the interventricular septum. The myocardium's structural and intracellular factors, combined with triggers such as physical exertion, autonomic dysfunction, and ischemia, can lead to reentry events, and atrial and ventricular arrhythmias, including atrial fibrillation (AF) which is common among HCM patients...
January 24, 2024: Current Cardiology Reviews
https://read.qxmd.com/read/38265401/micrornas-targeting-critical-molecular-pathways-in-diabetic-cardiomyopathy-emerging-valuable-for-therapy
#32
JOURNAL ARTICLE
Priyanka Mathur, Sharad Saxena, Bhawna Saxena, Vibha Rani
MicroRNAs have emerged as an important regulator of post-transcriptional gene expression studied extensively in many cancers, fetal development, and cardiovascular diseases. Their endogenous nature and easy manipulation have made them potential diagnostic and therapeutic molecules. Diseases with complex pathophysiology such as Diabetic Cardiomyopathy display symptoms at a late stage when the risk of heart failure has become very high. Therefore, the utilization of microRNAs as a tool to study pathophysiology and device-sustainable treatments for DCM could be considered...
January 24, 2024: Cardiovascular & Hematological Agents in Medicinal Chemistry
https://read.qxmd.com/read/38258577/promoter-deletion-confirms-that-mybpc3-haploinsufficiency-is-sufficient-to-cause-hypertrophic-cardiomyopathy-in-humans
#33
JOURNAL ARTICLE
Jesse B G Hayesmoore, Michael Bowman, Nora Shannon, Edward Blair, Hugh Watkins, Kate Thomson
No abstract text is available yet for this article.
January 23, 2024: Circulation. Genomic and Precision Medicine
https://read.qxmd.com/read/38244984/emerging-themes-in-genetics-of-hypertrophic-cardiomyopathy-current-status-and-clinical-application
#34
REVIEW
Soledad García-Hernández, Luis de la Higuera Romero, Juan Pablo Ochoa, William J McKenna
Hypertrophic cardiomyopathy (HCM), defined clinically by the presence of unexplained left ventricular hypertrophy (LVH) with wall-thickness ≥ 1.5 cm is a phenotype in search of a diagnosis which is most often a genetically determined, cardiac exclusive or systemic disorder. Familial evaluation and genetic testing are required for definitive diagnosis. The role of genetic findings in predicting disease development, outcomes, and increasingly to guide management is evolving with access to larger data sets...
January 18, 2024: Canadian Journal of Cardiology
https://read.qxmd.com/read/38240646/hypertrophic-cardiomyopathy-dysfunction-mimicked-in-human-engineered-heart-tissue-and-improved-by-sodium-glucose-cotransporter-2-inhibitors
#35
JOURNAL ARTICLE
Paul J M Wijnker, Rafeeh Dinani, Nico C van der Laan, Sila Algül, Bjorn C Knollmann, Arie O Verkerk, Carol Ann Remme, Coert J Zuurbier, Diederik W D Kuster, Jolanda van der Velden
AIMS: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy, often caused by pathogenic sarcomere mutations. Early characteristics of HCM are diastolic dysfunction and hypercontractility. Treatment to prevent mutation-induced cardiac dysfunction is lacking. Sodium-glucose cotransporter 2 inhibitors (SGLT2i) are a group of antidiabetic drugs that recently showed beneficial cardiovascular outcomes in patients with acquired forms of heart failure. We here studied if SGLT2i represent a potential therapy to correct cardiomyocyte dysfunction induced by an HCM sarcomere mutation...
March 14, 2024: Cardiovascular Research
https://read.qxmd.com/read/38235591/crispr-activation-reverses-haploinsufficiency-and-functional-deficits-caused-by-ttn-truncation-variants
#36
JOURNAL ARTICLE
Shahnaz Ghahremani, Aditya Kanwal, Anthony Pettinato, Feria Ladha, Nicholas Legere, Ketan Thakar, Yanfen Zhu, Harianto Tjong, Andrea Wilderman, W Tom Stump, Lina Greenberg, Michael J Greenberg, Justin Cotney, Chia-Lin Wei, J Travis Hinson
BACKGROUND: TTN truncation variants (TTNtvs) are the most common genetic lesion identified in individuals with dilated cardiomyopathy, a disease with high morbidity and mortality rates. TTNtvs reduce normal TTN (titin) protein levels, produce truncated proteins, and impair sarcomere content and function. Therapeutics targeting TTNtvs have been elusive because of the immense size of TTN, the rarity of specific TTNtvs, and incomplete knowledge of TTNtv pathogenicity. METHODS: We adapted CRISPR activation using dCas9-VPR to functionally interrogate TTNtv pathogenicity and develop a therapeutic in human cardiomyocytes and 3-dimensional cardiac microtissues engineered from induced pluripotent stem cell models harboring a dilated cardiomyopathy-associated TTNtv...
January 18, 2024: Circulation
https://read.qxmd.com/read/38226618/ttn-truncation-variants-produce-sarcomere-integrating-proteins-of-uncertain-functional-significance
#37
JOURNAL ARTICLE
J Travis Hinson, Stuart G Campbell
Titin (TTN) is one of the largest and most complex proteins expressed in humans, and truncation variants are the most prevalent genetic lesion identified in individuals with dilated cardiomyopathy (DCM) or other disorders of impaired cardiac contractility. Two reports in this issue of the JCI shed light on a potential mechanism involving truncated TTN sarcomere integration and the potential for disruption of sarcomere structural integrity. Kellermayer, Tordai, and colleagues confirmed the presence of truncated TTN protein in human DCM samples...
January 16, 2024: Journal of Clinical Investigation
https://read.qxmd.com/read/38224822/three-dimensional-co-culturing-of-stem-cell-derived-cardiomyocytes-and-cardiac-fibroblasts-reveals-a-role-for-both-cell-types-in-marfan-related-cardiomyopathy
#38
JOURNAL ARTICLE
Jeffrey Aalders, Laurens Léger, Louis Van der Meeren, Sanjay Sinha, Andre G Skirtach, Julie De Backer, Jolanda van Hengel
Pathogenic variants in the FBN1 gene, which encodes the extracellular matrix protein fibrillin-1, cause Marfan syndrome (MFS), which affects multiple organ systems, including the cardiovascular system. Myocardial dysfunction has been observed in a subset of patients with MFS and in several MFS mouse models. However, there is limited understanding of the intrinsic consequences of FBN1 variants on cardiomyocytes (CMs). To elucidate the CM-specific contribution in Marfan's cardiomyopathy, cardiosphere cultures of CMs and cardiac fibroblasts (CFs) are used...
January 13, 2024: Matrix Biology: Journal of the International Society for Matrix Biology
https://read.qxmd.com/read/38223010/a-novel-tpm1-mutation-causes-familial-hypertrophic-cardiomyopathy-in-an-indian-family-genetic-and-clinical-correlation
#39
Prabodh Kumar, Ganesh Paramasivam, Tom Devasia, Mukund Prabhu, Maneesh K Rai, K Prakashini, Sandeep Mallya, Dinesh Reghunathan, A Megha, Krishnananda Nayak, Rajasekhar Moka
Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disorder characterised by unexplained left ventricular hypertrophy in the absence of abnormal loading conditions. The global prevalence of HCM is estimated to be 1 in 250 in the general population. It is caused due to mutations in genes coding for sarcomeric proteins. α-tropomyosin (TPM1) is an important protein in the sarcomeric thin filament which regulates sarcomere contraction. Mutations in TPM1 are known to cause hypertrophic cardiomyopathy, dilated cardiomyopathy and left ventricular non-compaction...
January 2024: Indian Journal of Clinical Biochemistry: IJCB
https://read.qxmd.com/read/38214189/ptpn23-controls-cardiac-t-tubule-patterning-by-promoting-the-assembly-of-dystrophin-glycoprotein-complex
#40
JOURNAL ARTICLE
Chen Xu, Ge Zhang, Xinjian Wang, Xiaozhi Huang, Jiayin Zhang, Shuxian Han, Jinxi Wang, Duane D Hall, Ruoqing Xu, Feng He, Xing Chang, Fudi Wang, Wenjun Xie, Zhichao Wu, Long-Sheng Song, Peidong Han
BACKGROUND: Cardiac transverse tubules (T-tubules) are anchored to sarcomeric Z-discs by costameres to establish a regular spaced pattern. One of the major components of costameres is the dystrophin-glycoprotein complex (DGC). Nevertheless, how the assembly of the DGC coordinates with the formation and maintenance of T-tubules under physiological and pathological conditions remains unclear. METHODS: Given the known role of Ptpn23 (protein tyrosine phosphatase, nonreceptor type 23) in regulating membrane deformation, its expression in patients with dilated cardiomyopathy was determined...
January 12, 2024: Circulation
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