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1,088 results for “Cardiomyopathy”
Dataset related to the article "Clinical and Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated PKP2 Mutation"
<p>This record contains raw data related to the article “ Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated PKP2 Mutation”. </p> <p>Plakophilin-2 (<em>PKP2</em>) is the most frequently mutated desmosomal gene in arrhythmogenic cardiomyopathy (ACM), a disease characterized by structural and electrical alterations predominantly affecting the right ventricular myocardium. Notably, ACM cases without overt structural alterations are frequently reported, mainly in the early phases of the disease. Recently, the <em>PKP2</em> p.S183N mutation was found in a patient affected by Brugada syndrome (BS), an inherited arrhythmic channelopathy most commonly caused by sodium channel gene mutations. We here describe a case of a patient carrier of the same BS-related <em>PKP2</em> p.S183N mutation but with a clear diagnosis of ACM. Specifically, we report how clinical and molecular investigations can be integrated for diagnostic purposes, distinguishing between ACM and BS, which are increasingly recognized as syndromes with clinical and genetic overlaps. This observation is fundamentally relevant in redefining the role of genetics in the approach to the arrhythmic patient, progressing beyond the concept of "one mutation, one disease", and raising concerns about the most appropriate approach to patients affected by structural/electrical cardiomyopathy. The merging of genetics, electroanatomical mapping, and tissue and cell characterization summarized in our patient seems to be the most complete diagnostic algorithm, favoring a reliable diagnosis.</p>
Novel DMD mouse model carrying a multi-exonic Dmd deletion exhibit progressive muscular dystrophy and early-onset cardiomyopathy
Duchenne muscular dystrophy (DMD) is a life-threatening neuromuscular disease caused by the lack of dystrophin, resulting in progressive muscle wasting and locomotor dysfunctions. By adulthood, almost all patients also develop cardiomyopathy, which is the primary cause of death in DMD. While there has been extensive effort in creating animal models to study treatment strategies for DMD, most fail to recapitulate the complete skeletal and cardiac disease manifestations that are presented in affected patients. Here, we generated a mouse model mirroring a patient deletion mutation of exons 52-54 (<i>Dmd &[Delta]52-54</i>). The <i>Dmd &[Delta]52-54</i> mutation led to the absence of dystrophin, resulting in progressive muscle deterioration with weakened muscle strength. Moreover, <i>Dmd &[Delta]52-54</i> present with early-onset cardiomyopathy which is absent in current pre-clinical dystrophin deficient mouse models. Therefore, <i>Dmd &[Delta]52-54</i> presents itself as an excellent pre-clinical model to evaluate the impact on skeletal and cardiac muscles for both mutation dependent and independent approaches.
A specific IL6 polymorphic genotype modulates the risk of T. cruzi parasitemia while IL18, IL17A and IL1B variant profiles and HIV infection protect against cardiomyopathy in Chagas disease
<p><strong>Background:</strong> Chagas disease caused by Trypanosoma cruzi (T. cruzi) affects approximately six million individuals worldwide. Clinical manifestations are expected to occur due to the parasite persistence and host immune response. Herein we investigated potential associations between IL1B, IL6, IL17A or IL18 polymorphism profiles and cardiomyopathy or T. cruzi parasitemia, as well as the impact of HIV infection on cardiopathy.</p> <p><strong>Methods:</strong> 206 patients and 90 control individuals were analyzed. IL1B rs1143627 T>C, IL6 rs1800795 C>G, IL17A rs2275913 G>A, IL18 rs187238 C>G, and IL18 rs1946518 C>A SNVs were analyzed by real-time PCR and T. cruzi parasitemia by PCR.</p> <p><strong>Results: </strong>Our data revealed association between a cytokine gene polymorphism and parasitemia never previously reported. The IL6 rs1800795 CG genotype lowered the risk of positive parasitemia (OR=0.45, 95% CI 0.24–0.86, P=0.015). Original findings included associations between IL17A rs2275913 AA and IL18 s1946518 AA genotypes with decreased risk of developing cardiomyopathy (OR=0.27, 95% CI 0.07-0.97, P=0.044; and OR=0.35, 95% CI 0.14-0.87, P=0.023, respectively). IL18 rs1946518 AA and IL1B rs1143627 TC were associated with reduced risk for cardiomyopathy severity, including NYHA (New York Heart Association) class≥ 2 (OR=0.21, 95% CI 0.06-0.68, P=0.009; and OR=0.48, 95% CI 0.24-0.95, P=0.036, respectively) and LVEF (Left Ventricular Ejection Fraction) <45% for IL18 rs1946518 AA (OR=0.22, 95% CI 0.05-0.89, P=0.034). A novel, unexpected protective effect of HIV infection against development/progression of cardiomyopathy was identified, based on a lower risk of developing cardiopathy (OR=0.48, 95% CI 0.23‐0.96, P=0.039), NYHA class≥2 (OR=0.15, 95% CI 0.06‐0.39, P<0.001) and LVEF<45% (OR=0.03, 95% CI 0.00‐0.25, P=0.001). Digestive involvement was negatively associated with NYHA ≥2 and LVEF<45% (OR=0.20, 95% CI 0.09‐0.47, P<0.001; and OR=0.24, 95% CI 0.09-0.62, P=0.004, respectively).</p> <p><strong>Conclusions: </strong>Our data support a protective role of IL17A AA, IL18 AA and IL1B TC genotypes against development/progression of cardiomyopathy and a modulatory effect of the IL6 CG genotype on the risk of parasitemia in Chagas disease. Notably, HIV infection was shown to protect against development/progression of cardiopathy, potentially associated with a synergistic effect of HIV and HAART, attenuating a Th1-mediated response in the myocardium. This proposed hypothesis requires confirmation, however, in larger and more comprehensive future studies.</p>
Multi-omics reveals the attenuation of metabolic cardiomyopathy in mice by extracts from Clausena0 lansium (Lour.) by transiting gastrointestinal microbiota to an alternative homeostasis
<p>The raw data for MS "<strong>Multi-omics reveals the attenuation of metabolic cardiomyopathy in mice by extracts from </strong><i><strong>Clausena0 lansium</strong></i><strong> (Lour.) by transiting gastrointestinal microbiota to an alternative homeostasis".</strong></p>
The Involvement of ALPK3 in Hypertrophic Cardiomyopathy in East Asia
<p>793case_ALPK3_AC.count (Variants in ALPK3 in the discovery cohort)</p> <p>419case_ALPK3_AC.count (Variants in ALPK3 in the validation cohort)</p> <p> </p> <p>CHROM: chromosome</p> <p>POS: genetic position</p> <p>N_CHR: total number of alleles in samples</p> <p>{ALLELE:COUNT}: allele count for corresponding allele in samples</p>
OMA1-mediated integrated stress response protects against ferroptosis in mitochondrial cardiomyopathy
<p>Cardiomyopathy and heart failure are common manifestations in mitochondrial disease caused by deficiencies in the oxidative phosphorylation system of mitochondria (OXPHOS). Here, we demonstrate that the cardiac-specific loss of the assembly factor Cox10 of the cytochrome <em>c</em> oxidase causes mitochondrial cardiomyopathy in mice, which is associated with OXPHOS deficiency, lysosomal defects and an aberrant mitochondrial morphology. Activation of the mitochondrial peptidase Oma1 in <em>Cox10</em><sup>-/-</sup> mice results in mitochondrial fragmentation and induction of the integrated stress response (ISR) along the Oma1-Dele1-Atf4 signalling axis. Ablation of <em>Oma1</em> or <em>Dele1</em> in <em>Cox10</em><sup>-/-</sup> mice aggravates cardiomyopathy. ISR inhibition impairs the cardiac glutathione metabolism, limits the selenium-dependent accumulation of the glutathione peroxidase Gpx4 and increases lipid peroxidation in the heart, ultimately culminating in ferroptosis. Our results demonstrate a protective role of the Oma1-Dele1-mediated ISR in mitochondrial cardiomyopathy and link ferroptosis to OXPHOS deficiency and mitochondrial disease.</p>
Dataset related to the article "Cardiac Biomarkers and Autoantibodies in Endurance Athletes: Potential Similarities with Arrhythmogenic Cardiomyopathy Pathogenic Mechanisms"
<p>This record contains raw data related to the article “Cardiac Biomarkers and Autoantibodies in Endurance Athletes: Potential Similarities with Arrhythmogenic Cardiomyopathy Pathogenic Mechanisms". </p> <p>The "Extreme Exercise Hypothesis" states that when individuals perform training beyond the ideal exercise dose, a decline in the beneficial effects of physical activity occurs. This is due to significant changes in myocardial structure and function, such as hemodynamic alterations, cardiac chamber enlargement and hypertrophy, myocardial inflammation, oxidative stress, fibrosis, and conduction changes. In addition, an increased amount of circulating biomarkers of exercise-induced damage has been reported. Although these changes are often reversible, long-lasting cardiac damage may develop after years of intense physical exercise. Since several features of the athlete's heart overlap with arrhythmogenic cardiomyopathy (ACM), the syndrome of "exercise-induced ACM" has been postulated. Thus, the distinction between ACM and the athlete's heart may be challenging. Recently, an autoimmune mechanism has been discovered in ACM patients linked to their characteristic junctional impairment. Since cardiac junctions are similarly impaired by intense physical activity due to the strong myocardial stretching, we propose in the present work the novel hypothesis of an autoimmune response in endurance athletes. This investigation may deepen the knowledge about the pathological remodeling and relative activated mechanisms induced by intense endurance exercise, potentially improving the early recognition of whom is actually at risk.</p>
Exercise training prior to manifestation of hypertrophic cardiomyopathy in mice attenuates expression of pro-fibrotic genes - supplementary information
<p>Supplementary data for research article titled "Exercise training prior to manifestation of hypertrophic cardiomyopathy in mice attenuates expression of pro-fibrotic genes"</p>
Beneficial effects of exercise prior to development of hypertrophic cardiomyopathy in genotype positive mice
<p>Supplementary data for research article titled "Beneficial effects of exercise initiated prior to development of hypertrophic cardiomyopathy in genotype positive mice"</p>
Aficamten vs Placebo in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy (SEQUOIA-HCM)
ClinicalTrials.gov study NCT05186818. IPD Sharing: Not stated. Countries: 14. Publications: 10.
Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve
ClinicalTrials.gov study NCT03249272. IPD Sharing: UNDECIDED. Countries: 1. Publications: 5.
Safety and Efficacy of Tafamidis in Patients With Transthyretin Cardiomyopathy
ClinicalTrials.gov study NCT01994889. IPD Sharing: YES. Countries: 13. Publications: 27.
Study of AG10 in Amyloid Cardiomyopathy
ClinicalTrials.gov study NCT03458130. IPD Sharing: NO. Countries: 1. Publications: 1.
Treatment of Preclinical Hypertrophic Cardiomyopathy With Diltiazem
ClinicalTrials.gov study NCT00319982. IPD Sharing: Not stated. Countries: 1. Publications: 10.
Eplerenone for Subclinical Cardiomyopathy in Duchenne Muscular Dystrophy
ClinicalTrials.gov study NCT01521546. IPD Sharing: Not stated. Countries: 1. Publications: 2.
Transapical Beating-Heart Septal Myectomy in Patient With Hypertrophic Obstructive Cardiomyopathy: a Multi-Center Study
ClinicalTrials.gov study NCT05957419. IPD Sharing: YES. Countries: 1. Publications: 1.
A Phase 2 Study of Mavacamten in Adults With Symptomatic Non-Obstructive Hypertrophic Cardiomyopathy (nHCM)
ClinicalTrials.gov study NCT03442764. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Cardiac Mechanics by Speckle Tracking as a Prognostic Predictor in Patients With Chagas Cardiomyopathy
ClinicalTrials.gov study NCT06806722. IPD Sharing: NO. Countries: 1. Publications: 2.
Safety and Efficacy Study of Stem Cell Transplantation to Treat Dilated Cardiomyopathy
ClinicalTrials.gov study NCT00629018. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Cardiomyopathy in DMD: Lisinopril vs. Losartan
ClinicalTrials.gov study NCT01982695. IPD Sharing: Not stated. Countries: 1. Publications: 3.
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
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DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.