Articles tagged with Congenital Heart Disease
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A growing number of US adults are living with congenital heart defects, necessitating improved healthcare services and data collection systems. The condition affects approximately 2.4 million people in the US, with a 40% increase in adults compared to 2000 estimates.
Researchers from the University of Pennsylvania found that heart transplants can be performed in adult patients with prior corrective surgery for congenital heart disease with excellent outcomes. The study, which included 17 consecutive patients, showed a 100% survival rate at both 30 days and one year.
Researchers discovered a single genetic mutation responsible for 20% of severe congenital heart disease cases accompanied by neurodevelopmental disorders. The study used genomic sequencing to analyze 1,213 children with congenital heart disease and identified a subset of genes that act as conductors in organ formation.
Researchers identify common genetic link between heart and neurodevelopmental diseases in children, shedding light on shared causes of cardiac and extra-cardiac abnormalities. The study reveals de novo mutations in genes involved in heart and brain development, suggesting potential for early testing to identify high-risk newborns.
A study published in Science found that mutations before birth can disrupt heart and nervous system development, leading to congenital heart disease and developmental delays. Researchers identified damaging mutations in genes crucial for heart and brain formation, which may enable early DNA testing to identify at-risk children.
A study of over 14,000 adults found those born with congenital heart disease have a 3.5 times higher risk of heart attack before age 50 and twice the risk after. Mortality rates are also significantly higher, with some cases showing a mortality rate four times that of the general population.
A new study documents a substantial increase in US children's pulmonary hypertension hospitalizations over 15 years, resulting in significant cost increases. The study also found that hospitalizations are now more common among children without congenital heart disease.
Researchers analyzed metabolites in the blood of children undergoing heart surgery for congenital heart disease and found a link between certain molecules and clinical outcome. The presence of ketone bodies correlated with better outcomes, while other metabolites such as citrate, lactate, and alanine were associated with poorer outcomes.
A study published in Nature has identified 61 genes associated with congenital heart disease mutations, highlighting the crucial role of cilia in heart development. The research used fetal ultrasound exams to scan over 87,000 mice and sequenced their genes to find these genetic links.
A recent study found that pregnant women with non-complex congenital heart disease had very low risks of arrhythmias and other heart-related complications during labor and delivery. However, these women were more likely to undergo cesarean section and remain in the hospital longer than expected.
A survey of parents with congenital heart disease found that physicians often fail to provide compassionate and understandable information, leading to difficult decisions and stress. The study suggests that physicians should offer context, including success rates and internet resources, to help guide treatment choices.
Li Qian, an assistant professor at the University of North Carolina School of Medicine, has received a New Scholar in Aging Award from the Ellison Medical Foundation. The award provides four years of funding to support her research on regenerating or repairing injured heart cells.
A team of Nationwide Children's Hospital researchers identified a genetic mutation in the FOXP1 gene that contributes to congenital heart disease. The study found that a rare mutation in FOXP1 affects Nkx2.5 transcription factor expression, which is implicated in congenital heart disease.
Researchers have identified two genomic variations on chromosome 21 that are associated with the risk of congenital heart disease in people with Down syndrome. The study highlights the complex genetic architecture underlying this common symptom, which is also linked to an increased risk of chronic myeloid leukemia.
Researchers discovered a new gene associated with congenital heart disease, specifically atrial septal defect (ASD), which may help improve genetic counselling and understanding of normal development. The study involved over 2,000 patients and found a strong association between the Msx1 gene and risk of ASD.
Research finds that spontaneous genetic mutations are a major cause of congenital heart disease, accounting for 10% of severe cases. The mutations affect genes involved in regulating gene expression and DNA packaging, leading to increased risk of heart defects.
A massive genomics study by Yale researchers found hundreds of mutations causing congenital heart disease, often affecting histone-modifying genes. The study's findings suggest a wide range of common congenital diseases share common pathways.
A large-scale sequencing analysis of congenital heart disease has identified a specific biological pathway that is critical to its development. The study found that spontaneous mutations affect genes involved in this pathway, which is essential for human development and can lead to structural heart problems in infants.
A minimally invasive procedure called VATS-LCSD has been shown to be effective in treating refractory cardiac arrhythmias in children. Almost three-quarters of symptomatic patients responded well to the treatment, with 55% becoming arrhythmia-free after sympathectomy.
Congenital heart disease admissions to acute care hospitals have grown at a higher rate among adults compared to children over the past two decades. The study found a significant increase in hospitalizations for adult patients with congenital heart disease, with a 87.8% increase during the second half of the study period.
A new mouse model reveals that abnormal heart cell development during embryogenesis may be responsible for congenital heart disease. The study suggests that genetic mutations, such as the GATA4 mutation, can lead to underdevelopment of heart walls and septal defects.
Adolescents and adults with congenital heart disease exhibit poor dental hygiene practices despite better overall health behaviors. Substance use increases with age in these patients, but they also tend to have lower rates of binge drinking compared to their peers.
Researchers at the Gladstone Institutes have identified a key genetic mechanism linked to congenital heart disease, revealing the importance of epigenetics in fetal heart development. The study highlights the role of Ezh2 and Six1 genes in regulating healthy heart development, which can have profound health consequences later in life.
Adults with congenital heart disease and implanted cardioverter defibrillators (ICDs) experience sexual performance problems due to fear of device shock. The study found men with ICDs had lower sexual function scores, especially those with high shock-related anxiety.
Pulse oximetry is a viable screening tool for detecting congenital heart disease in infants, with over 26% of births occurring in facilities without same-day echocardiography. The implementation of pulse oximetry is expanding rapidly, particularly after the US Department of Health and Human Services added it to core screening standards.
Research by Imperial College London found that babies and toddlers with congenital heart disease have higher levels of toxins in their blood after surgery, leading to longer intensive care stays. The study suggests a link between gut bacteria, bacterial fragments called endotoxins, and poor clinical outcomes.
The growing population of adult survivors of congenital heart disease requires a lifelong process of medical interactions, unique to each individual. Advances in various fields such as surgery, imaging, and transplantation offer strategies for managing this complex patient population.
A new study has identified seven genes that cause heterotaxy, a condition leading to severe congenital heart disease. The research found that children with this condition have a higher burden of copy number variations (CNVs) on their genomes, which also affect frog models.
Adults with congenital heart disease are more likely to suffer from heart-focused anxiety if their parents were overprotective during childhood and adolescence. Health professionals can encourage greater independence for adolescents and adults with congenital heart disease to improve psychosocial adjustment.
A new study aims to investigate whether delaying the clamping of a newborn's umbilical cord for two minutes after birth can improve their recovery from corrective heart surgery. The study hopes to determine if this practice can decrease the need for blood transfusions in critically ill babies.
A genetic variant in the ISL1 gene has been identified as a strong risk factor for congenital heart disease, which affects at least one in 100 live births. The study found that different variants of the gene increase the risk of CHD in white and African American children.
Researchers identified a genetic variant in the ISL1 gene that strongly raises the risk of congenital heart disease, affecting multiple subtypes of the condition. The study provides new insights into the molecular basis of heart disease and may lead to better understanding and treatment options for children with CHD.
A recent study by Nationwide Children's Hospital sheds light on the deadly bowel disease necrotizing enterocolitis (NEC) in infants born with complex congenital heart disease. The research reveals that neonates undergoing the hybrid procedure have a lower risk of NEC compared to those receiving the Norwood procedure.
The Bench to Bassinet Program aims to translate scientific discoveries into usable treatments for congenital heart disease. Researchers will study genetic data and heart development to provide a comprehensive picture of healthy and abnormal hearts, ultimately informing clinical practice.
Researchers at the University of Pittsburgh are using a mouse model to identify genes that cause congenital heart defects, which affect up to 1% of live births. The goal is to develop a diagnostic chip that can rapidly identify genetic root causes of specific heart defects.
The Canadian Cardiovascular Society has released new guidelines for the management of adults with congenital heart disease, cardiovascular risk evaluation tools, and simplified target levels. The guidelines aim to provide evidence-based medicine for clinicians and improve heart health in Canadians.
The Gladstone Institute of Cardiovascular Disease has been awarded a $10 million grant to investigate the genetic causes of congenital heart disease. The team will use genome-mapping techniques to understand how regulatory networks control heart development and aim to identify genes that turn on or off during heart formation.
Researchers have identified a genetic factor that increases the risk of sudden cardiac death in patients with congenital long-QT syndrome. Variants of the gene NOS1AP were found to predispose individuals to a worse form of the disease, leading to longer QT intervals and increased symptoms.
A study of nearly 1,500 newborns found seasonal occurrences of Hypoplastic Left Heart Syndrome, with peaks between April and July, suggesting environmental factors may contribute to the disease.
A new study compares careers and long-term occupational success of individuals with congenital heart disease to the general population. Men are less likely to be employed full-time than part-time, while female patients show fewer differences in employment patterns.
The guidelines provide clinical features, diagnosis, and treatment information for a range of congenital heart defects. They also highlight key issues to look for during follow-up and make recommendations on genetic testing, pregnancy, contraception, and physical activity.
Researchers identify Asian women as a high-risk group for congenital aneurismal fistulas, which can cause heart attack and sudden death. Hypertension is a common risk factor, and treatment involves surgery or coil insertion to prevent rupture.
A study found that the brains of term infants with congenital heart disease are more similar to those of premature newborns than normal term infants, indicating impaired brain development before birth. The research suggests abnormal fetal circulation and lower oxygen levels may contribute to these impairments.
Researchers discovered a genetic link between primary ciliary dyskinesia (PCD) and heterotaxy, an abnormal position of the heart and lungs. This connection suggests that PCD may cause respiratory complications in children with congenital heart disease, leading to improved diagnosis and treatment.
Researchers have discovered a link between mutations in the MRTF-B gene and congenital heart disease in mice, which mimics human conditions such as truncus arteriosis. The study found that defects in cardiac neural crest cells lead to impaired blood vessel development and outflow tract defects.
A study published in Cell found that genetic defects in Nkx2-5 lead to progressive heart failure by degrading the electrical wiring of the heart, particularly the atrioventricular node. The researchers also identified a growth-factor gene called BMP-10 as a key contributor to this process.
Researchers have discovered a potential genetic risk factor for late-onset Alzheimer's disease on chromosome 10, linked to amyloid protein processing. The findings suggest that more than one gene may contribute to the development of late-onset AD, offering new hope for diagnosis and treatment.
Scientists at UCSF discovered a single defect in a protein causes severe auto-immune disease resembling lupus, affecting 100,000 people in the US. The finding provides evidence that lupus might be an inherited disease with a simple genetic root, rather than multiple genetic defects.
Scientists have discovered that mutant protein fragments selectively accumulate in the nuclei and axon terminals of neurons in the brain affected by Huntington's disease. This accumulation is thought to inhibit neurotransmitter release, causing the death of specific neurons.
Researchers at Children's Hospital of Philadelphia uncover the connection between chromosome 22's chemical structure and genetic diseases like +der(22) syndrome. They found unstable DNA sequences that can lead to translocations, increasing the risk of disease.
Researchers used a mouse model to identify changes occurring in nerve cells before the onset of Huntington's disease. They identified several signaling molecules that could be targeted for future therapies.
A recent study found that the genetic marker associated with periodontal disease in people of European heritage is barely present in Chinese populations. This suggests that oral hygiene habits, smoking, and other risk factors may be more important in explaining the high prevalence of periodontal disease in Chinese populations.
Researchers used embryonic stem cells to repair damaged nerve fibers in a rat model of Pelizaeus-Merzbacher disease. The study showed that transplanted cells can promote myelin sheath growth, potentially leading to improved function and clinical applications.
A Johns Hopkins-led study shows that many heart disease features are better explained by the body's responses to genetic damage rather than the damage itself. The research used a miniaturized catheter to compare healthy and diseased mouse hearts, revealing evolving adaptations that worsen symptoms over time.
The new guidelines provide recommendations for diagnosing and treating heart valve disease, covering common disorders such as mitral valve prolapse and aortic stenosis. It also addresses rare ailments, provides advice on evaluating and treating adults, teens, and pregnant women with defective valves.
Researchers have generated mice with human apoE3 or apoE4 genes, showing that apoE3 promotes nerve cell outgrowth while apoE4 does not. This study provides new insights into the biological effects of apoE variants and may offer a common mechanism for their adverse effects on neurodegenerative diseases.
Researchers found that a specific gene variant, e4, is linked to higher risk of intracerebral hemorrhages (ICH), a severe form of stroke, in African Americans. The study also revealed that these strokes occur at an earlier age in African Americans compared to whites.
Researchers at Duke University have developed a genetically engineered enzyme treatment to address Pompe disease, a condition causing skeletal, heart, and lung muscle destruction. The new therapy will be tested in infants with the most severe symptoms first.
A new study has identified a common functional problem in enlarged heart disease that causes sudden death in athletes, regardless of the genetic cause. This finding suggests that a single therapeutic approach may be effective for all victims of hypertrophic cardiomyopathy (HCM), a leading cause of sudden death in young adults.