A new method using shared segments within the genome has identified undiagnosed cases of Long QT syndrome, a rare disorder that can lead to abnormal heart rhythms and sudden cardiac death. The approach was developed by researchers at Vanderbilt University Medical Center and applied to a DNA biobank to detect carriers of rare disease-ca...
A new individualized risk prediction tool has been developed to predict the severity of heart disease in people suffering from Long QT syndrome. The test analyzes genetic mutations associated with the condition and can identify those at high risk of sudden cardiac death, allowing for tailored treatment.
Researchers at TUM have developed a method to create mini-hearts in Petri dishes using stem cells. The resulting organoids mimic the earliest stages of human heart development and can be used to investigate congenital heart defects, potentially leading to new treatment methods.
Researchers from Linköping University found that estrogen impairs the function of a specific ion channel, Kv7.1/KCNE1, which is associated with long QT syndrome and arrhythmia. This suggests that estrogen may be a risk factor for certain types of heart rhythm disturbances in women with hereditary mutations.
A new study found that electronic gaming can precipitate life-threatening cardiac arrhythmias in susceptible children with previously unrecognized predispositions. The most common underlying causes were catecholaminergic polymorphic ventricular tachycardia and congenital long QT syndrome types 1 and 2.
Researchers have created a new electrical test to screen hundreds of gene mutations, pinpointing harmful mutations that cause inherited heart disorders and sudden death. The breakthrough can identify genetic variants associated with neurological conditions, muscle and kidney diseases.
Researchers recommend expanding diagnostic workup to include cardiac arrhythmias for unexplained enuresis in adults and children. An electrocardiogram is a cost-effective and non-invasive test that can detect potentially fatal diseases.
A clinical trial found that remote monitoring of medication's potential arrhythmic side effects is feasible and safe for patients with mild COVID-19. The study used handheld devices to transmit digital ECGs, suggesting a potential expansion of clinical research to broader populations and reducing participants' burdens.
Researchers at Mayo Clinic have developed an AI-powered mobile EKG device that can rapidly and accurately determine a patient's QTc, identifying those at risk of sudden cardiac death from congenital long QT syndrome or drug-induced QT prolongation. The device achieved high sensitivity and specificity in detecting clinically meaningful ...
Researchers at Mayo Clinic have developed the first hybrid gene therapy for treating long QT syndrome, a genetic heart rhythm condition. The therapy targets the KCNQ1 gene and has shown potential therapeutic efficacy in two in vitro model systems using beating heart cells reengineered from patient blood samples.
A ClinGen panel validated three genes associated with long QT syndrome, disputing nine other genes linked to the condition. The study highlights the need for critical evaluation of gene-disease associations to prevent patient harm.
A new study confirms grapefruit juice prolongs the QT interval, posing a risk to patients with congenital long QT syndrome and those taking QT-prolonging medications. The findings call for stronger warnings to protect these patient groups.
A team of researchers at Washington University in St. Louis has made a significant step towards precision medicine for patients with Long QT Syndrome Type 3, a life-threatening form of irregular heartbeat. By analyzing genetic variation and the nanoscale interaction of a commonly used drug treatment, they determined which patients woul...
A new study published in the International Journal of Cardiology has found that energy drinks can trigger serious cardiac events, including arrhythmias and cardiac arrest, in individuals with congenital long QT syndrome. The researchers warn young patients with this genetic condition to exercise caution when consuming energy drinks.
A genetic testing error led to the misdiagnosis of long QT syndrome in over 20 family members, resulting in one tragic death. The case highlights the importance of accurate interpretation and careful use of genetic testing to avoid such mistakes.
Researchers discovered a genetic link between Long QT Syndrome (LQTS) and an increased risk for seizures. LQTS patients who experienced seizures were three times more likely to have experienced seizures in the past, and had worse cardiac symptoms.
Researchers found nearly four in five patients with a specific mutation carried out blackouts, yet only 26% received correct diagnosis and treatment. The study highlights the need for proper medical attention if symptoms occur, as delayed diagnosis can be fatal.
Children with long QT syndrome who take ADHD medications are at increased risk of experiencing heart-related problems, including syncope. Researchers call for cautious prescribing and close follow-up to mitigate this risk.
The grant will allow Cui to analyze mechanisms underlying potassium ion channel properties and develop targeted treatments for cardiac arrhythmia. He aims to understand a novel mechanism behind Long QT syndrome, which can be fatal.
A new ECG device, QTScreen, has the potential to identify infants at risk of long QT syndrome, a genetic heart condition that can be treated with medication. The device will be tested on 4,000 babies in Southern California and is designed to be easy to use for parents.
A new technology has been developed to diagnose and possibly treat a deadly heart condition in unborn babies. The magnetic EKG, or magnetocardiogram, was used to diagnose long QT syndrome in fetuses with 89% accuracy, identifying those at risk of life-threatening arrhythmias.
Researchers at NHCS successfully reversed effects of hERG mutation in patient-specific heart cells, scoring a world's first. The discovery could revolutionize drug development and lead to a potential cure for the life-threatening condition within 5-8 years.
A study of 91 unexplained fetal deaths found genetic mutations associated with long QT syndrome, a heart condition that can cause sudden death. The discovery sheds light on a potential cause of stillbirths and highlights the need for further research.
Researchers identified genetic variants associated with long QT syndrome in a small number of cases of intrauterine fetal death, including stillbirths. The study found that these variants were more common in late miscarriages and stillbirths than expected, suggesting a potential link between LQTS and intrauterine fetal deaths.
Researchers used iPSCs to study the physiological basis of arrhythmias in a patient with LQTS. The results identified a specific regimen for correcting aberrant ion channel activity, offering promise for individualized drug therapies.
A Mayo Clinic study found that many patients with long QT syndrome can safely participate in competitive sports, contradicting current strict guidelines. The study of 353 LQTS patients showed that only one patient experienced a life-threatening event while competing.
A Wake Forest Baptist study suggests Long QT Syndrome may cause unexplained deaths during Excited Delirium. The syndrome can be triggered by agitation, confusion, or psychiatric issues, highlighting the need for law enforcement education to prevent in-custody deaths.
Studies using a genetic animal model reveal conditions triggering arrhythmia in Long QT Syndrome patients and the protective effect of progesterone on SCD incidence. Researchers also find a direct link between estrogen and pro-arrhythmic effects, with progesterone reducing triggers for polymorphic ventricular tachycardia.
Tel Aviv University's Dr. Sami Viskin has developed a new test to detect 'sudden death syndrome' in young athletes, which can be done at the patient's bedside using an electrocardiogram (ECG). The test detects a measurable difference in heart rate called the QT interval, which can help doctors identify patients at risk for sudden death.
Researchers created beating human heart cells from skin cells of patients with a severe genetic heart defect, allowing them to study and characterize the disorder at the cellular level. They also identified a promising drug to reverse the heart malfunction, which has no decent treatments currently available.
Long QT syndrome affects approximately 1 in 2500 people and can cause torsade de pointes episodes leading to sudden death. Researchers identified KCNH2 as the most frequent mutation in patients with long QT syndrome, highlighting the potential for genetic testing to diagnose the condition in carriers without symptoms.
A Mayo Clinic study found that genetic testing results are not binary but probabilistic, requiring physicians to meticulously interpret test results. The study also showed that about 4% of healthy Caucasian volunteers have rare variants present in the background noise of genetic tests.
Researchers from the University of Iowa have discovered that calmodulin kinase II contributes to arrhythmia in Timothy syndrome, a rare disease affecting only 20 people worldwide. Inhibiting this enzyme can prevent irregular heartbeats.
Researchers created a first-ever genetic animal model to study anesthetic agents' effects on individuals genetically predisposed to arrhythmia and sudden cardiac death. The study found that some anesthetics trigger arrhythmias, particularly in models with long QT syndrome.
Researchers developed a genetic model of LQTS that mimics human arrhythmia, revealing underlying mechanisms and potential therapeutic targets. The study could lead to the development of new treatments for fatal arrhythmias, particularly in pre-menopausal women who are more sensitive to certain medications.
Researchers found that slow fetal growth is linked to an increased risk of developing type 2 diabetes in adulthood. They also identified a new gene mutation associated with sudden cardiac death in humans. The study used rat models and human tissue samples to understand the mechanisms behind these diseases.
Researchers found that ranolazine shortens the QT interval by about 5 percent and improves myocardial relaxation in patients with LQT3 mutation, providing a potential treatment for two conditions. The drug also showed benefits in improving left ventricular relaxation and increasing mitral E-wave velocity.
A recent study by Mayo researchers found that about 40% of patients referred for a second opinion on long QT syndrome (LQTS) did not show sufficient evidence to merit the diagnosis. The study highlights the challenge in diagnosing LQTS, which can be lethal if not diagnosed correctly, and emphasizes the need for cautious evaluation by e...
A Mayo Clinic research study found that over one-third of young people who died suddenly and inexplicably had genetic heart defects. The defects were caused by mutations that impair the heart's rhythm center, leading to conditions such as Long QT syndrome and catecholaminergic polymorphic ventricular tachycardia.
Researchers identify Caveolin-3 gene as key to understanding electrical imbalance in heart rhythm disorder, long QT syndrome. The mutation of this gene can trigger arrhythmia and increase risk of sudden cardiac death, highlighting the need for new treatment targets.
A study published in JAMA found that recent syncope, QTc interval duration, and sex are significant independent predictors of cardiac arrest and sudden death in adolescents with LQTS. The study identified nearly 12 times the risk for life-threatening events among patients with 1 syncopal episode in the last 2 years.
A new study by the University of Rochester Medical Center found that genetic defects, particularly those related to Long QT Syndrome (LQTS), are significant risk factors for sudden cardiac death in teenagers. The study also identified changes in puberty among teens with LQTS as a predictor of life-threatening events.
A recent study published in the European Heart Journal found that routine ECG screening for newborns can identify life-threatening genetic conditions like long QT syndrome, which can be prevented with medication. The cost-effectiveness analysis suggests that this program could save up to 27 lives per year in Italy.
Researchers found that repeated ECG measurements over time are more effective in identifying children at risk of life-threatening heart rhythm disorders. The study suggests re-evaluating low-risk patients with multiple ECG readings to accurately determine their risk for sudden cardiac death.
Researchers identified 235 different mutations in 310 patients, with 70% of Romano Ward probands successfully genotyped using standard methods. The new approach aims to facilitate genetic testing for LQTS in a broader group of individuals, including those receiving QT-interval prolonging drugs and family members.
A study of 43 families of sudden unexplained death victims found an inherited disease in 17 cases, while another pilot study showed yoga and meditation improved endothelial function. Strong social support was linked to lower blood pressure, while adherence to guidelines for angioplasty procedures led to better outcomes.
An international team has defined a previously undescribed inherited cardiac arrhythmia syndrome caused by mutations in the ankyrin-B gene. The syndrome, distinct from Long QT Syndrome, is characterized by abnormal heartbeats and increased risk of sudden death, particularly among young people.
A 40-minute surgical procedure called left cardiac sympathetic denervation (LCSD) reduces the risk of cardiac arrest and fainting episodes in people with long QT syndrome, a rare heart disorder. The study found that LCSD surgery reduced cardiac events by 91 percent compared to pre-surgery rates.
A comprehensive DNA analysis of 744 healthy volunteers has identified 49 distinct genetic variants associated with increased risk of sudden cardiac death. These variants were found in specific ethnic groups and may impact diagnosis and testing for long QT syndrome, particularly among minority patients.
Researchers discovered 13 novel nucleotide variations in the coding region of the SCN5A gene, which is responsible for the initial upstroke of the heart's action potential. The study suggests that genetic variation may play a role in the ethnic difference in disease susceptibility among Japanese patients.
A study published in Nature reveals a specific gene mutation causing inherited Long QT Syndrome, leading to fatal cardiac arrhythmias and sudden death. Researchers identified the E1425G mutation in ankyrin-B, a protein crucial for heart muscle cell function.
Researchers have identified an abnormality in the anchoring protein ankyrin-B as the cause of long QT syndrome, a rare and often fatal heart condition. The study found that disruption of this protein causes ion channels to function improperly, leading to abnormal heartbeats and cardiac arrhythmia.
A study by the American Heart Association suggests that long Q-T syndrome, a heart condition, may be responsible for some sudden infant deaths. Researchers analyzed DNA from frozen heart tissue of unexplained infant deaths and found genetic anomalies in 32% of cases.
Mayo Clinic researchers have found a renewed use for a test to identify patients at risk of long QT syndrome, a genetic condition that can cause sudden death. The study used epinephrine infusion and electrocardiogram monitoring to detect a specific response in people with long QT syndrome 1, a subtype of the condition.
Research study finds a positive association between obesity and long QTc, as well as an inverse association between physical activity and QTc duration in African American women. The study suggests that otherwise healthy individuals with obesity are at increased risk for acquiring Long QT Syndrome.
A clinical study of 800 people with Long QT Syndrome found that an individual's own characteristics and electrocardiogram findings are the major determinants of risk for sudden death. This challenges the long-held assumption that family history plays a role in determining the risk.