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.
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 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.
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.
A new study has identified key risk factors for major atrial fibrillation outcomes in patients with hypertrophic cardiomyopathy, including age, obesity, and heart function. The research aims to create a risk-assessment tool to identify high-risk patients and prevent hospitalizations.
A new study published in Circulation: Genomic and Precision Medicine Journal found that teenagers knowing the results of their cardiomyopathy genetic tests do not harm family relationships or function. In fact, most adolescents were glad to receive their test results, suggesting improved mental health outcomes.
A team of researchers from Japan and Germany created a mouse model that mimics the human pathology of restrictive cardiomyopathy, allowing for easier study. The model shows changes in protein quality control and autophagy, leading to fibrosis and heart muscle stiffening.
A national study found that only half of children with cardiomyopathy have undergone genetic screening, despite critical benefits for treatment and potentially curing the disease. Genetic screening can provide lifesaving information to families and prioritize children for a lifesaving cardiac transplant.
Researchers highlight the importance of myocardial fibrosis in HCM diagnosis and treatment, citing gene mutation and abnormal energy metabolism as contributing factors. The use of magnetic resonance imaging is also discussed as a diagnostic tool for fibrosis.
The updated HCM guideline emphasizes shared decision-making in the management of hypertrophic cardiomyopathy. It provides recommendations on evaluation and management, medical therapies, septal reduction therapies, and SCD risk assessment/prevention. The guideline aims to personalize treatment options based on patient goals and concerns.
The study analyzed a microarray dataset to identify differentially expressed genes in dilated cardiomyopathy, revealing 172 genes involved in various biological processes. The authors identified hub protein modules and key genes, including DLD and UQCRC2, which suggest potential therapeutic targets for the disease.
A new study found a correlation between RNA-binding protein clumping and protein aggregates in the hearts of patients with RBM20 dilated cardiomyopathy. This discovery suggests that RBM20 is an RNA-binding protein granule disease similar to Lou Gehrig's disease and Alzheimer's disease.
Mavacamten improves key structural abnormalities in obstructive hypertrophic cardiomyopathy, reducing obstruction to blood flow and abnormal mitral valve motion. The treatment also decreases elevated filling pressures and restores normal cardiac structure and function.
A genetic mutation in the cystic fibrosis gene may accelerate heart function decline in DMD patients, suggesting a potential benefit from more aggressive and earlier cardiac interventions. Researchers identified this specific mutation as exacerbating cardiomyopathy in DMD patients.
Researchers at Washington State University have discovered mavacamten, a molecule that suppresses excessive force generated by hyper-contractile muscle cells in the human heart. The drug reduces maximal force of contraction by nearly 20-30% compared to controls, suggesting its potential as a treatment for hypertrophic cardiomyopathy.
Researchers at CNIC used cardiac magnetic resonance technology to measure exercise-related hypertrabeculation in a general population. A third of participants with high vigorous physical activity met the diagnostic criteria for noncompaction cardiomyopathy, despite being healthy.
The EXPLORER-HCM trial demonstrated that mavacamten significantly improves exercise capacity, symptoms, and quality of life in patients with obstructive hypertrophic cardiomyopathy. The treatment was found to be generally well-tolerated, with a favorable safety profile.
A new study from the University of Colorado School of Medicine reveals that asymptomatic Chagas patients are at a high risk of developing cardiomyopathy, a progressive heart disease. The risk more than doubles among patients with acute infections, according to the study published in JAMA Network Open.
A Marshall University researcher has been awarded a $444,000 grant to investigate the role of sodium pump signaling in fat cells and its potential as a treatment for uremic cardiomyopathy. The study aims to reveal more about oxidative stress and its impact on disease progression.
Cleveland Clinic researchers found a significant increase in patients with stress cardiomyopathy, also known as broken heart syndrome, during the COVID-19 pandemic. Symptoms include chest pain, shortness of breath, and irregular heartbeat.
This observational study compared patients with acute coronary syndrome presenting during and before the COVID-19 pandemic to investigate stress cardiomyopathy incidence. Stress cardiomyopathy was found to be more prevalent during the pandemic, suggesting a potential impact of COVID-19 on cardiovascular health.
New research from Marshall University finds that production of peptide NaKtide in fat cells inhibits sodium pump function, preventing the development of cardiomyopathy associated with renal failure. The study also suggests targeting adipocytes may serve as a viable clinical strategy for preventing and treating the condition.
Dr. Jeffrey A. Towbin, a researcher at Le Bonheur Children's Hospital, has received a NIH research project grant to identify modifier genes in cardiomyopathy. The study aims to understand how different genetic backgrounds affect the expression of myopalladin, a gene linked to the severity of cardiomyopathy.
Researchers at Mayo Clinic have created an artificial intelligence (AI) algorithm that can detect unseen characteristics of hypertrophic cardiomyopathy using standard EKGs. The AI's ability to diagnose the disease was found to be highly accurate, with an area under the curve of 0.96, outperforming traditional tests.
A new gene mutation, A143T variant of GLA gene, is associated with an increased risk of Fabry cardiomyopathy. Patients carrying the mutation should initiate treatment to prevent disease progression.
Researchers have identified high levels of ketone bodies in the plasma of patients with arrhythmogenic cardiomyopathy as a reliable predictor of disease progression. The biomarker could help track the progression of this inherited heart condition, which can be fatal without warning.
Researchers analyzed 2,467 patients with hypertrophic cardiomyopathy, finding racial disparities in symptom severity, healthcare access, and treatment outcomes. The study suggests that race plays a significant role in shaping the disease's impact on patients.
Researchers identified 22 new mutations in the TITIN gene associated with non-ischemic dilated cardiomyopathy, a disease weakening the heart muscle. Patients with these mutations had severe cardiomyopathy and poorer outcomes, highlighting the need for genetic testing and aggressive monitoring.
Researchers have developed a comprehensive registry of over 2,750 patients with hypertrophic cardiomyopathy, allowing for more accurate predictions of patient risk and identification of best treatments. The study's findings will help doctors better understand the condition and its complexities.
A recent US pediatric heart transplant policy change aimed to reduce waitlist mortality rates but may have inadvertently increased deaths for certain patients. The study highlights the need for further discussion on optimizing organ allocation and waitlist criteria.
Researchers at CNIC discover strategies to inhibit kinase GSK3? in mice with ARVC5, reducing fibrosis and improving heart function. The study aims to translate the results to patients and investigate gene therapy strategies for potential cure.
A recent study published in The FASEB Journal explored the potential of SIRT6 to protect the heart from developing diabetic cardiomyopathy. Researchers found that SIRT6 over-expression can prevent the development of obesity and cardiomyopathy under conditions of excess nutrition.
The CARDIATEAM project aims to determine the unique characteristics of diabetic cardiomyopathy and identify new biomarkers and therapeutic targets. The study will collect data from 1,600 patients with various cardiometabolic disorders over three years.
Cardiomyopathies in children are a life-threatening condition with symptoms including difficulty breathing, heart rhythm abnormalities, and swelling. Research highlights the need for better understanding of the causes to provide effective treatments and improve outcomes for affected children.
A study from the Intermountain Healthcare Heart Institute has identified eight new gene mutations that may cause or contribute to idiopathic dilated cardiomyopathy, a form of heart disease not caused by known external influences. The researchers found that at least 40% of patients have an underlying genetic cause for the disease.
Peripartum cardiomyopathy (PPCM) is a disorder where heart failure develops during or after pregnancy. Recent studies suggest angiogenic imbalance plays a key role, with soluble fms-like tyrosine kinase-1 (sFlt1) and prolactin being important factors. The latest IPAC study recommendations are also referenced.
A nationwide study published in ESC Heart Failure has identified four major mutations causing hypertrophic cardiomyopathy in Finland. The study found that 40% of patients carried a specific or likely mutation, while 20% were carriers of a rare gene mutation with unknown role.
A new medicine under development, vamorolone, shows improved safety in treating both inflammation and heart disease in experimental models of DMD. This is significant because the current standard of care, prednisone, reduces chronic inflammation but has harsh side effects.
Researchers have identified a key molecule named PI3K alpha that binds to gelsolin and suppresses its enzyme activity, leading to dilated cardiomyopathy. The discovery offers potential for targeted therapies in patients with heart failure.
A nationwide research team has discovered a strong relationship between early-onset atrial fibrillation and mutations in the TTN gene, which helps maintain heart muscle structure. Roughly two percent of patients with early-onset Afib had a loss-of-function mutation in TTN, increasing their likelihood of diagnosis at younger ages.
Researchers found that nearly 330 patients continued to engage in thrill-seeking activities, with nearly 8,000 total events reported. Nine people experienced serious health effects, with four cases occurring during roller coaster riding.
Researchers have discovered that a specific gene mutation, R403Q, affects the force and velocity of myosin molecule contractions in individuals with hypertrophic cardiomyopathy. This finding has implications for developing targeted drugs to improve heart function in affected patients.
Research reveals PRMT1-mediated alternative splicing is strongly linked to dilated cardiomyopathy, a serious heart condition. The study's findings provide new insights into the mechanism of DCM and may lead to the development of new treatments.
Researchers discovered a micropeptide called DWORF that restores normal heart function in mice by enhancing SERCA activity and preventing calcium dysregulation. The study shows that DWORF can prevent the functional and structural effects of cardiomyopathy, making it a promising new gene therapy target for treating heart failure.
Researchers discovered that mitochondrial DNA (mtDNA) variants interact with nuclear DNA mutations to determine the severity of heart disease in mice. Different mtDNA variants conferred either worsened or protected heart damage, suggesting a key role for mtDNA in cardiomyopathy progression.
Researchers at MUSC and Ohio State University have discovered an unexpected mechanism that underlies cardiomyopathy in DMD. Inhibiting NF-κB normalizes calcium handling and significantly increases calcium gene expression, leading to improved heart function.