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Heart disease model puts cells to work

Researchers develop a model of heart disease by tricking stem cells to behave like mature heart cells with a mutation that causes hypertrophic cardiomyopathy. The study reveals the connection between mechanical stress and electrical function in hearts, shedding light on why genetic mutations can cause arrhythmias.

New drug makes exercise, everyday tasks easier for people with common heart condition

A clinical trial found that aficamten significantly increased maximum oxygen use in patients with obstructive hypertrophic cardiomyopathy. This improvement enables patients to perform everyday tasks more easily, such as walking and household chores. Researchers believe aficamten has promise as a treatment for this condition.

SourceOregon Health & Science University·JournalNew England Journal of Medicine·TypeRandomized controlled/clinical trial·DateMay 13, 2024

Exercise, new drug class recommended for management of hypertrophic cardiomyopathy

The American College of Cardiology and American Heart Association have released a new clinical guideline for effectively managing individuals diagnosed with hypertrophic cardiomyopathy. The guideline recommends exercise as part of a healthy lifestyle, including low-to-moderate intensity recreational activities, while also introducing a...

SourceAmerican College of Cardiology·JournalJournal of the American College of Cardiology·DateMay 8, 2024

A new Spanish study provides the first stratification of the risk of developing dilated cardiomyopathy among symptom-free genetic carriers

A new Spanish study provides the first stratification of the risk of developing dilated cardiomyopathy among symptom-free genetic carriers. Researchers found that nearly 11% of genetic carriers developed the disease within a median follow-up period of 37 months.

SourceCentro Nacional de Investigaciones Cardiovasculares Carlos III (F.S.P.)·JournalJournal of the American College of Cardiology·TypeObservational study·DateApr 22, 2024

Elucidating the link between Guillain–Barré syndrome and Takotsubo cardiomyopathy

A recent study investigates the correlation between Takotsubo cardiomyopathy (TCM) and Guillain–Barré syndrome (GBS), revealing key factors that distinguish TCM patients from those with classical GBS. The researchers identified age at onset, disability scores, muscle weakness, and cranial nerve involvement as significant differences.

SourceKindai University·JournalJournal of Neurology·TypeData/statistical analysis·DateApr 11, 2024

Most survivors of childhood cancer don't get the tests needed to detect serious long-term adverse effects

A study found that up to 87% of childhood cancer survivors are not following recommended screening guidelines, leaving them vulnerable to late effects such as heart disease and certain cancers. The lack of awareness and barriers to adherence may contribute to this low rate, highlighting the need for improved support and education.

SourceCanadian Medical Association Journal·JournalCanadian Medical Association Journal·TypeObservational study·DateMar 11, 2024

Vest can detect earlier signs of heart muscle disease

A new vest can map electric impulses of the heart in fine detail, detecting abnormalities from a potentially fatal heart disease much earlier. The study found that the vest identified electrical changes among 1 in 4 individuals with a gene mutation for whom no signs of disease were detected via standard tests.

SourceUniversity College London·JournalJournal of the American College of Cardiology·TypeObservational study·DateFeb 28, 2024

Chronic exposure to air pollution may increase risk of cardiovascular hospitalization among seniors

A new study found that chronic exposure to PM2.5 is associated with increased risk of hospital admission for various cardiovascular conditions, particularly ischemic heart disease and cerebrovascular disease. The study suggests that lowering annual average PM2.5 levels could decrease overall cardiovascular hospitalizations by 15%.

SourceHarvard T.H. Chan School of Public Health·JournalBMJ·TypeObservational study·DateFeb 21, 2024

Gene-based therapy may slow development of life-threatening heart condition

Researchers have found that a gene-based therapy targeting plakophilin-2 can interrupt the progression of arrhythmogenic right ventricular cardiomyopathy, a rare inherited disorder. The treatment reduced episodes of arrhythmia and slowed the deterioration of the heart's walls in mice.

SourceNYU Langone Health / NYU Grossman School of Medicine·JournalCirculation Genomic and Precision Medicine·TypeExperimental study·DateJan 30, 2024

Heart vest could help predict sudden cardiac death risk

A new study by UCL researchers suggests that a vest mapping the heart's electrical activity could help identify people at high risk of sudden cardiac death. The electrocardiographic imaging (ECGI) vest combines signals with MRI images to generate 3D models, potentially predicting risk factors for life-threatening heart rhythms.

SourceUniversity College London·JournalJournal of Cardiovascular Magnetic Resonance·TypeRandomized controlled/clinical trial·DateDec 18, 2023

Potential new target and drug candidate for Barth syndrome

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...

SourceUniversity of Pittsburgh·JournalNature Metabolism·TypeExperimental study·DateNov 23, 2023

New study finds genetic testing is effective in identifying patients with inherited risk of cardiomyopathy to improve quality of life and reduce deaths

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.

SourceIntermountain Healthcare·TypeObservational study·DateNov 12, 2023

University of Minnesota Medical School researchers investigate cause of cardiomyopathy in coronary artery disease using cardiac MRI

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...

SourceUniversity of Minnesota Medical School·JournalCirculation·TypeRandomized controlled/clinical trial·DateNov 10, 2023

Study reveals significant difference in cardiomyopathy genes between Black and White patients

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.

SourceLouisiana State University Health Sciences Center·JournalJAMA·TypeObservational study·DateAug 3, 2023

New study finds the prealbumin gene alone is insufficient for diagnosis of 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.

SourceBoston Medical Center·JournalJournal of the American Heart Association·DateJul 28, 2023

A ribosomal traffic jam that breaks the heart

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.

SourceKyushu University·JournalNature Communications·TypeExperimental study·DateMay 18, 2023

LincRNA paints a target on diseased tissues

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.

SourceUniversity of Tokyo·JournaliScience·TypeExperimental study·DateApr 26, 2023

The shape of your heart matters

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.

Transcatheter mitral valve repair in heart failure patients significantly reduces hospitalizations and improves survival

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.

SourceThe Mount Sinai Hospital / Mount Sinai School of Medicine·JournalNew England Journal of Medicine·TypeRandomized controlled/clinical trial·DateMar 5, 2023

New mutation in the desmoplakin gene leads to ACM

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.

SourceHubrecht Institute·JournalStem Cell Reports·TypeExperimental study·DateMar 2, 2023

Researchers uncover how gene that increases risk of genetic heart disease works, paving way for new treatments

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.

SourceMurdoch Childrens Research Institute·JournalNature Cardiovascular Research·TypeExperimental study·DateMar 1, 2023

Study links genetic variant to digestive disturbances in patients with Chagas disease

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.

Myocardial strain parameters on MRI in patients with dilated cardiomyopathy

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.

SourceAmerican Roentgen Ray Society·JournalAmerican Journal of Roentgenology·TypeImaging analysis·DateNov 9, 2022

Specific modifier genes determine the effect of mutations that cause non-compaction cardiomyopathy

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.

SourceCentro Nacional de Investigaciones Cardiovasculares Carlos III (F.S.P.)·JournalCirculation·TypeExperimental study·DateNov 7, 2022

Genetic testing helps detect children likely to have heart failure and require a transplant

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.

SourceCentenary Institute·JournalCirculation Genomic and Precision Medicine·TypeExperimental study·DateOct 12, 2022

Chinese researchers reveal SERCA2a as a molecular link between insulin resistance and the early pathogenesis of diabetic cardiomyopathy

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.

SourceHigher Education Press·JournalLife Metabolism·TypeExperimental study·DateSep 28, 2022

Scientists at the CNIC and Hospital Puerta de Hierro develop a tool to determine if dilated cardiomyopathy has a genetic origin

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.

SourceCentro Nacional de Investigaciones Cardiovasculares Carlos III (F.S.P.)·JournalJournal of the American College of Cardiology·TypeRandomized controlled/clinical trial·DateSep 12, 2022

CNIC scientists uncover opposing roles of p38 proteins in cardiac hypertrophy

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.

Genetic findings offer opportunity for personalized heart failure treatment

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.

SourceBrigham and Women's Hospital·JournalScience·TypeExperimental study·DateAug 4, 2022