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New genes implicated in deadly heart defect

Researchers from Sanford Burnham Prebys have identified new genes that contribute to hypoplastic left heart syndrome (HLHS), a rare and life-threatening heart disease. The findings, published in eLife, bring scientists one step closer to unraveling the biology of this complex disease.

Researchers target proteins, pathways behind congenital heart disease

Researchers at UNC School of Medicine identified molecular pathways critical for heart development, revealing that the mevalonate pathway regulates embryonic heart cell cycling and signaling molecules. This study provides a foundational data set to identify biological causes of congenital heart disease.

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A key mechanism that controls human heart development discovered

A specialized mRNA translation circuit controlled by protein RBPMS determines the competence for heart formation in human embryonic development. The study provides a better understanding of human cardiac development and reveals potential molecular targets for therapeutic interventions.

Brain injuries drop 20% for babies with heart defects

A 20-year study reveals that recent advances in surgical and clinical care have significantly reduced brain injuries in babies with congenital heart disease. Infants who received higher postoperative blood pressure had a 20% lower risk of brain injury compared to those in earlier stages.

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Davis Instruments Vantage Pro2 Weather Station offers research-grade local weather data for networked stations, campuses, and community observatories.

New 3D model shows how cadmium exposure may affect heart development

Researchers developed a 3D organoid model that mimics human heart development, revealing how low levels of cadmium can block cardiomyocyte formation and induce heart abnormalities. The study supports decades of toxicology research on environmental exposures contributing to human diseases.

New genetic finding sheds light for congenital heart disease

A study led by the Masonic Medical Research Institute found that VGLL4 is required for embryo development but dispensable for myocardial growth, providing new insights into congenital heart defects and heart failure. This discovery has significant implications for treating heart malformations.

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Scientists implicate non-cardiac genes in congenital heart disease

Researchers discovered that non-cardiac protein subunit CHD4 interacts with three cardiac genes mutated in patients with congenital heart disease, leading to misexpression of non-cardiac genes and faulty heart development. This finding provides a new mechanism for the prevalence of congenital heart disease in humans.

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Doctors diagnosing fetal heart disease benefit from explanatory AI

Researchers found that AI-enhanced diagnosis helps doctors accurately detect fetal congenital heart disease, with fellows making the most accurate diagnoses. The new system uses graphical charts to represent the AI's analysis of ultrasound videos, improving accuracy and trust among medical professionals.

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Getting to the heart of complex disease

Researchers at Gladstone Institutes have developed a novel method for identifying genetic variants that are likely to play important roles in congenital heart disease. The study leverages interactions between proteins to pinpoint candidate genes, including GLYR1, which is involved in turning other genes on and off.

When a protective gene buffers a bad one, a heart can beat

Scientists found a protective gene that counters a deleterious mutation causing atrial septal defects, allowing some people with the mutation to thrive. The discovery provides valuable clinical information for families affected by congenital heart disease.

My heart will go on: Patient-derived heart cells mimic disease in vitro

Researchers from Osaka University created patient-derived heart cells that exhibit reduced contractility and impaired desmosome assembly when carrying a mutation associated with arrhythmogenic cardiomyopathy. Replacing the mutated gene restored normal function, suggesting a potential treatment approach for this disease.

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Genetic study of heart defects and autism finds new causative genes

Researchers identified 23 genes contributing to congenital heart disease, including 12 previously unknown, using a new algorithm called M-DATA. This method combines genetic data from people with related conditions, increasing the power to identify risk factors and potentially leading to improved treatments.

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How SNPs can be used to detect disease pathways

Researchers developed VarSAn, a computational tool that analyzes SNPs to predict disease pathways, including breast and prostate cancer. The tool uses network analysis to identify perturbed pathways, offering a new approach to understanding genetic variation.

Study reveals networks of genes involved in congenital heart disease

Researchers at Gladstone Institutes and UCSF have discovered a complex network of genes and proteins that go awry in a subset of congenital heart diseases. The study sheds light on how genetic mutations contribute to the disease, offering new insights into potential prevention or treatment strategies.

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Cutting-edge, whole-heart imaging provides new details on heart defects

A new imaging technique has been developed that allows scientists to study the tiny details of a whole animal heart in 3D. This technique may lead to new insights into congenital heart disease and improve survival rates for people born with heart defects. The study reveals structural differences between healthy and defective heart cell...

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What happens when babies with heart defects become adults?

Adults with congenital heart disease require lifelong management, including regular appointments, pregnancy planning, and exercise recommendations. The ESC guidelines provide guidance on diagnosis, treatment, and support to help these individuals lead normal lives.

ESC Congress 2020 - Highlights from the scientific program

ESC Congress 2020 presented over 400 topics covering the entire spectrum of cardiology, including late-breaking science studies, clinical trials, and ESC Guidelines. The event featured four new Clinical Practice Guidelines launched live during the congress.

SCAI issues recommendations on adult congenital cardiac interventional training

The Society for Cardiovascular Angiography and Interventions has issued recommendations on adult congenital cardiac interventional training, focusing on eligibility, training environment, and procedural volume. The guidelines suggest a minimum of 150 ACHD catheterization cases for trainees to participate in as primary or first assistant.

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Congenital heart disease more deadly in low-income countries

A comprehensive study of congenital heart disease found lower predicted long-term survival, higher remission rates, and lower prevalence in low-income countries compared to high-income nations. The study revealed a significant disparity in CHD mortality rates between countries, with most deaths occurring in infants under one year old.

Can cells collected from bone marrow repair brain damage in babies with CHD?

Researchers at Children's National Hospital aim to use mesenchymal stromal cells collected from bone marrow to promote brain growth and repair in newborns undergoing cardiac surgery for congenital heart disease. The NIH-funded trial seeks to determine the safety of this treatment and set the stage for a Phase 2 efficacy trial.

Fathers-to-be should avoid alcohol six months before conception

Research published in European Journal of Preventive Cardiology suggests that fathers-to-be should not consume alcohol for at least six months before fertilization, while mothers should stop drinking one year prior to pregnancy. This can lower the risk of congenital heart disease in offspring.

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Researchers test new imaging method for first time on human patients

Researchers have successfully tested a new ultrasound technology on human patients, enabling detailed images of internal structure and blood flow. The vector flow imaging method provides advanced detail of blood flow patterns within cardiac chambers, across valves, and in the great arteries.

Newborns with congenital heart disease have enlarged kidneys

A study by Gemma Scholes and colleagues found that newborn babies with congenital heart disease tend to have significantly enlarged kidneys. This contradicts previous assumptions about organ development in these infants. The type of congenital abnormality also influences kidney size, with some having larger or smaller than normal kidneys.

CVIA special issue on adult congenital heart disease

This special issue of CVIA journal presents major review articles and research findings on Adult Congenital Heart Disease, including pulmonary hypertension management, Ebstein anomaly surgery, and heart transplantation. Key topics include pregnancy in congenital heart disease and depression in adults with congenital heart disease.

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The surgical management of Ebstein anomaly

Ebstein anomaly presents a wide spectrum of presentation, with outcomes varying by age at diagnosis. Surgical management is crucial, with poorer outcomes in neonates and excellent outcomes in adults.

Left ventricular systolic function after pulmonary valve replacement

After pulmonary valve replacement, patients with severe right ventricular volume overload due to pulmonary regurgitation often present with decreased RV function. However, the study found that preoperative LV systolic dysfunction is the only independent predictor of postoperative improvement in LV systolic function.

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Growing group of women take heart in pregnancy recommendations

Women born with complex congenital heart disease can now have successful pregnancies thanks to new guidance. The American Heart Association journal Circulation published a road map for healthcare providers, emphasizing the need for close monitoring and expert care.