Articles tagged with Cardiomyopathy
Researchers at the University of Pittsburgh have discovered a potential new target for treating Barth syndrome, a rare genetic disease with devastating consequences. They identified a molecular culprit that could be targeted to potentially reverse the disease course and developed a small-molecule drug candidate to correct genetic tafaz...
A new study found that genetic screening can identify patients with an inherited risk of cardiomyopathy, allowing for closer monitoring and improved treatment. The study suggests that widespread genetic testing can lead to better outcomes for these patients, including reduced deaths.
A recent study published in Circulation found that non-ischemic or dual cardiomyopathy occurs in 1 out of every 6 patients with coronary artery disease. These conditions are characterized by heart muscle damage and can lead to worse long-term outcomes. The researchers used cardiac MRI to determine the cause of cardiomyopathy, which has...
A study by the University of Helsinki has identified two genetic risk factors, RNF207 and PRKAA2, that contribute to dilated cardiomyopathy in both humans and Dobermanns. The research offers a new perspective on the disease and may lead to the development of early diagnostic tests for breeders.
A new computational approach removes movement in heart cell and tissue images, allowing direct monitoring of electro-mechanical coupling. The algorithm mimics a drug's action, giving insight into heart diseases.
Autophagy helps protect cardiomyocytes from damage caused by anthracycline drugs like Doxorubicin. The study found that a protein regulator called ER-phagy alleviates Dox-induced cardiomyopathy, promoting cell survival.
A new study found that younger atrial fibrillation (AFib) patients who underwent MRI-guided ablation treatments had better outcomes. The treatment significantly improved arrhythmia recurrence rates by 50% for patients under 58 years old.
The European Society of Cardiology has published its first international guidelines on cardiomyopathies, covering all subtypes and specific recommendations for other than hypertrophic cardiomyopathy. The guidelines aim to improve diagnosis, treatment and management of heart muscle diseases, emphasizing patient-centered care.
Researchers found that African ancestry patients with dilated cardiomyopathy have fewer clinically actionable variants in DCM genes compared to European ancestry patients. The study enrolled 1,198 patients with dilated cardiomyopathy, revealing a racial imbalance in genetic trials for heart failure.
A new multi-center study found that having a genetic variant in the prealbumin gene alone is not sufficient for diagnosing transthyretin amyloid cardiomyopathy in older Black patients. Researchers suggest that a blood test measuring prealbumin levels may be useful in identifying patients at risk of developing cardiac amyloidosis.
Researchers developed a new method to detect hypertrophic cardiomyopathy (HCM) using combined cardiac diffusion tensor imaging and cardiac MRI perfusion scans. The study identified abnormal microstructure and microvascular disease in people with genetic mutations but no symptoms, allowing for early detection of the condition.
Researchers created a digital replica of patients' hearts to inform arrhythmogenic right ventricular cardiomyopathy (ARVC) diagnosis and treatment. The 'genotype-specific digital-twin' strategy could tailor therapies based on individual genetics, improving precision healthcare in other diseases.
The new scientific statement highlights the importance of identifying the root cause of pediatric cardiomyopathy to develop effective treatment strategies. Genetic testing is recommended for all children with cardiomyopathy, which may lead to financial and emotional cost savings.
A groundbreaking study has shown that a devastating heart condition can spontaneously reverse in three men, who are now free of symptoms. The condition, transthyretin cardiac amyloidosis, is progressive and previously considered irreversible.
Researchers found that a mutation in RPL3L, expressed only in heart and skeletal muscle, leads to impaired cardiac contractility by causing ribosomal collisions and protein folding abnormalities. The study aims to develop new treatments for cardiomyopathy and atrial fibrillation.
A study funded by the National Institutes of Health found that vigorous exercise is safe for people with hypertrophic cardiomyopathy, a rare inherited disorder affecting the heart muscle. The research, published in JAMA Cardiology, suggests that restrictions on exercise may be unnecessary for individuals with HCM.
Researchers have discovered a novel feature of long intergenic noncoding RNAs (lincRNAs) that can serve as markers indicating specific types of tissue. This finding has the potential to lead to highly specific disease treatments by targeting diseased tissues.
A study found that extended ECG monitoring detected a higher incidence of clinically relevant arrhythmias in patients with hypertrophic cardiomyopathy, including non-sustained ventricular tachycardia. The increased detection led to reclassification of more than one-fifth of patients to a higher risk category.
Researchers from the Smidt Heart Institute found that individuals with spherical hearts are 31% more likely to develop atrial fibrillation and 24% more likely to develop cardiomyopathy. The study identified four genes associated with cardiomyopathy and a greater risk of developing atrial fibrillation.
A recent study suggests that cardiac sphericity, or the roundness of the heart, may be a useful indicator for diagnosing cardiovascular conditions. The research used machine learning to analyze medical images and found a link between increased sphericity and future heart troubles.
Researchers found that a plakophilin-2 mutation leads to increased desmosomal protein degradation in ACM hearts, causing structural and functional changes. Studying human heart samples and mice models confirmed the role of protein degradation in ACM development.
Researchers have discovered a new strategy for treating arrhythmogenic cardiomyopathy by restoring the trafficking protein GJA1-20k, which enables healthy connections between heart cells. This finding may also be applicable to treating dangerous arrhythmias associated with other conditions.
A new study shows that transcatheter mitral valve repair significantly reduces hospitalizations by almost 50 percent and death by nearly 30 percent in heart failure patients with severe mitral regurgitation. The procedure, using Abbott's MitraClip system, improves symptoms, reduces hospitalizations, and leads to longer survival.
Researchers identified a new mutation in the desmoplakin gene that leads to cardiac disease arrhythmogenic cardiomyopathy (ACM). The mutation affects heart muscle cell connections and ion channel function, highlighting the importance of desmosomes in maintaining healthy heart function.
A recent study led by Murdoch Children's Research Institute has revealed a new pathway for how genetic mutations impact heart muscle function. The research identifies the gene ALPK3 as a key player in cardiomyopathy, a group of diseases affecting the heart's ability to pump blood, and provides hope for new targeted therapies.
Researchers identified a genetic variant linked to digestive disturbances in patients with Chagas megaesophagus, a disorder characterized by esophageal dilation and loss of motility. The study suggests that increased interferon-gamma production leads to mitochondrial dysfunction, contributing to the development of the disease.
A multicenter study found that left ventricular global longitudinal strain is a significant independent predictor of all-cause mortality and/or heart-failure hospitalization in patients with ischemic or nonischemic dilated cardiomyopathy. The study used cardiac MRI feature tracking to calculate six myocardial strain parameters.
Researchers found that the presence of one Mindbomb1 mutation does not always lead to non-compaction cardiomyopathy, but depends on genetic context provided by other gene mutations. The study identified modifier genes contributing to disease severity and diversity in affected individuals.
Researchers evaluated the safety and efficacy of NTLA-2001 in patients with transthyretin amyloid cardiomyopathy. The results showed significant reductions in circulating TTR protein levels, which were sustained for up to six months after treatment.
Researchers genetically modified mice to develop a similar disease to humans, identifying previously unknown mechanisms and potential therapeutic targets. The study found that reduced adhesion between cardiac muscle cells leads to scarring and arrhythmia, providing new insights into the disease.
Dr. Christine E. Seidman, a renowned physician-scientist, has made groundbreaking discoveries in genetics and cardiomyopathy, leading to new pharmacological treatments. Her work has improved our understanding of disease risks and has led to unique targeted therapies.
A novel screening tool has been developed to diagnose a serious heart condition in young athletes. The tool uses non-invasive ultrasound techniques to accurately identify cardiomyopathy, reducing false positives and providing better protection for the athletes of tomorrow.
Researchers have developed genetic testing to diagnose cardiomyopathy in children, identifying those at risk of heart failure and requiring a transplant. The test provides precise clinical diagnosis, enabling targeted treatment options and reducing the need for life-threatening interventions.
A recent study published in Life Metabolism found that impaired phosphorylation of SERCA2a plays a bidirectional role in myocardial insulin resistance, dysregulation of calcium homeostasis, and the early stages of DCM. This mechanism involves the regulation of protein stability and insulin receptor maturation.
Researchers found that nearly nine in ten cases of sudden cardiac death due to hypertrophic cardiomyopathy (HCM) are preceded by symptoms, ECG abnormalities, or a positive family history. Expanded screening programs could aid in the prevention of SCD in young individuals with HCM.
A new software application predicts the likelihood that a case of dilated cardiomyopathy has a genetic mutation. The Madrid Genotype Score identifies patients most likely to have inherited the disease, facilitating genetic screening and tailored treatment adjustments.
A study by CNIC scientists has identified a key role for the MKK3/6–p38γ/δ signaling pathway in cardiac hypertrophy. Inhibition of p38α promotes an unexpected activation of the other branch of the pathway, consisting of the proteins MKK3, p38γ, and p38δ. This activation induces another key pathway in cardiac hypertrophy, the mTOR pathway.
Researchers discovered distinct genetic mutations in heart failure patients, identifying potential targets for personalized treatment and improving patient care. The study's findings hold enormous potential for rethinking how to treat heart failure by understanding its root causes and the mutations that lead to changes in heart function.
Researchers mapped specific gene variants to their effects on cardiac cells, revealing unique responses to different mutations. This study provides insights into the development of precision-targeted interventions for dilated cardiomyopathy and other genetic heart diseases.
Researchers found 560 proteins were differentially expressed, with 32 significantly altered, in reductive stress hearts. The proteome signature revealed oxidative stress-related pathways and mitochondrial dysfunction.
A team of researchers, backed by a £30m grant from the British Heart Foundation, aims to develop the first cures for inherited heart muscle diseases using ultra-precise gene therapy technologies. They plan to deploy CRISPR technology to correct or silence faulty genes, potentially delivering an injectable cure within years.
A global team of researchers, including Professor Stuart Cook, has won £30M to develop an injectable cure for genetic heart conditions. The team aims to pioneer gene therapy technologies to silence or edit faulty genes causing deadly conditions.
A Spanish study combines genetic and imaging data to predict patient prognosis, identifying those at risk of malignant arrhythmias or severe complications. The findings open the way for personalized medicine in treating dilated cardiomyopathy.
The Brigham and Women's Hospital will implement and evaluate an integrated service delivery model (PEN-Plus) for severe chronic noncommunicable diseases, such as type 1 diabetes and rheumatic heart disease, in eight low- and lower-middle-income countries. The initiative aims to enable one million of the world's poorest children and you...
Research led by Texas A&M AgriLife scientist Shaodong Guo found that estrogen protects female mice from cardiomyopathy and death, reversing the effects of insulin resistance. The study suggests that estrogen replacement therapy may be a feasible treatment option for diabetic cardiomyopathy.
Researchers discovered a new gene, ZBTB11, that drives heart muscle cell degeneration in arrhythmogenic cardiomyopathy. The gene's activity induces damage to neighboring heart cells, a key process in the disease.
Researchers applied scRNA-seq to study hypertrophic cardiomyopathy, identifying novel regulatory interactions and genes driving disease-related swelling. This knowledge can be used to develop new drugs that target underlying causes, reducing disease progression.
A new clinical trial found that the drug mavacamten alleviates shortness of breath in patients with obstructive hypertrophic cardiomyopathy. The treatment also improves symptoms and heart failure biomarkers.
A phase 3 study found that mavacamten significantly improved symptoms, quality of life, and key heart markers in patients with obstructive HCM. Only 17.9% of those on mavacamten were still eligible for surgical intervention after 16 weeks, compared to 76.8% on placebo.
The trial evaluated the use of mavacamten as an alternative to heart surgery or alcohol septal ablation for treating hypertrophic cardiomyopathy. Findings showed significant reduction in left ventricular outflow tract pressure gradient and improvements in quality-of-life measures.
A new AI algorithm developed by physician-scientists can effectively identify and distinguish between two life-threatening heart conditions: hypertrophic cardiomyopathy and cardiac amyloidosis. The algorithm uses specific features from cardiac ultrasound videos to flag high-risk patients, enabling earlier diagnosis and treatment.
A study led by Ohio State University Wexner Medical Center finds that Black patients with dilated cardiomyopathy have a higher risk of family members being affected. The research analyzed data from 1,220 patients and their relatives, revealing that 39% of Black patients had at least one first-degree family member with the condition.
A new combined 3D modelling technique can accurately predict abnormal heart rhythms in patients with hypertrophic cardiomyopathy approximately 80% of the time. The approach also identifies cardiac diffuse fibrosis as a risk factor for these abnormalities, potentially guiding patient care.
Researchers have created the first patient-specific zebrafish model for arrhythmogenic cardiomyopathy (ACM), a heart disease caused by a genetic mutation. The model recapitulates the human form of ACM, including fat accumulation in the heart and changes in calcium levels, and shows promise for relieving symptoms.
A Mayo Clinic study reveals sex and race disparities in the management of patients with hypertrophic cardiomyopathy, with women and patients of color receiving ICDs less frequently. Regional variations in ICD use were also observed, with underuse in some areas and overuse in others.
Researchers found that genomic screening can identify patients at risk for heart disease due to amyloidosis. The study used data from the MyCode Community Health Initiative and electronic health records to determine how often patients with specific transthyretin variants showed signs of cardiomyopathy.
A new study finds that genetic testing for cardiomyopathies and arrhythmias simultaneously can detect conditions more accurately than single-condition tests. This leads to better diagnosis and treatment options, such as targeted therapies and monitoring devices.
A study published in Science Translational Medicine reveals that truncated titin proteins cause a reduction in contractile force in patients with dilated cardiomyopathy. The research also suggests possible treatment strategies, including genetic editing using CRISPR-Cas9.
Researchers at Penn Medicine have made a major advance in understanding dilated cardiomyopathy (DCM), a common and fatal heart disorder. The largest single cause of DCM involves the mutation of the gene that encodes titin, leading to abnormalities in heart muscle cells.
A UCL-led research team has discovered a new gene causing hypertrophic cardiomyopathy, an inherited heart condition. The study found that variants in the ALPK3 gene are responsible for 1-2% of adults with the condition, affecting approximately 1,250-2,500 people in the UK.