Brugada Syndrome

Researchers are studying Brugada Syndrome (BrS), a heart condition that can cause dangerous irregular heartbeats, especially in patients who may not show symptoms at diagnosis. This study aims to evaluate the effectiveness of a catheter ablation procedure at medium to long-term follow-up in patients with BrS. The procedure targets abnormal heart signals detected using a high-density, high-resolution electrode array to better understand and treat the arrhythmogenic substrate associated with BrS. The study also investigates a new measurement called the dST-Tiso interval, which may predict the risk of arrhythmias in these patients. The treatment involves epicardial substrate homogenization by ablating abnormal fragmented prolonged low-frequency ventricular electrograms using a contact force catheter guided by detailed electrical mapping. This catheter ablation is performed in patients who have already had an implantable cardioverter defibrillator (ICD) and documented ventricular arrhythmias. The study collects data on heart electrical activity using advanced mapping tools and evaluates changes after the ablation procedure. The procedure aims to improve the definition of abnormal heart areas and may confirm links with specific ECG features. Participants will be monitored at 3, 6, and 12 months after the ablation procedure to assess freedom from ventricular arrhythmias. The study collects detailed electrical maps, vector data, and speed maps to help understand BrS mechanisms. Patients undergo regular follow-up visits where heart function and arrhythmia status are assessed. The study tracks long-term outcomes related to heart rhythm safety and effectiveness of the ablation approach. The total participation duration covers at least one year of follow-up after treatment.

Researchers are conducting a prospective clinical cohort study called TRUST to better understand long-term outcomes and factors that predict recurrence in patients treated for cardiac arrhythmias or those at high risk for arrhythmias. This study focuses on conditions such as atrial fibrillation, ventricular tachycardia, and other serious arrhythmias that contribute significantly to illness and death, especially in aging populations. It aims to collect detailed clinical and procedural information alongside systematic biobanking to enable precise patient characterization. Participants will be enrolled at a single tertiary care center specializing in heart conditions. The study involves collecting routine follow-up data and detailed information about treatments, including medications, devices, and interventions used to manage arrhythmias. Biosamples will be collected for molecular analysis, and digital tools will be used to capture clinical data and monitor heart rhythms over time. During the study, participants will undergo systematic rhythm monitoring with digital devices and regular clinical assessments over a five-year follow-up period. Researchers will evaluate outcomes such as cardiovascular mortality, stroke, heart failure hospitalizations, new arrhythmias, and quality of life. Safety outcomes including complications from rhythm control therapies and overall survival will also be monitored. The study aims for near-complete inclusion of eligible patients treated at the center to gather robust real-world data.

Researchers are investigating the use of buccal smear samples to identify individuals at risk of sudden cardiac death (SCD) due to heritable arrhythmic disorders. These disorders affect the distribution of proteins at the junctions where heart cells connect, influencing mechanical and electrical coupling. The study focuses on conditions such as arrhythmogenic cardiomyopathy, hypertrophic and dilated cardiomyopathy, cardiac sarcoidosis, and cardiac channelopathies like Long QT syndrome and Brugada syndrome. The goal is to improve diagnosis and risk assessment without the need for invasive heart biopsies. Participants include patients diagnosed with these heritable arrhythmic disorders and family members of SCD victims. The main procedure involves collecting cells from the inside of the cheek using a soft brush to create a buccal smear. This painless and quick process is done during regular cardiology clinic visits. Most participants will provide a single sample, but some may be asked to provide additional samples during follow-up visits, especially if there are changes in their condition or treatment. During the study, participants will have their cheek cells analyzed for protein distribution related to their heart condition. Samples may be collected every six months for ongoing monitoring. Researchers will also study correlations between protein distribution, genetic information, and treatments. The study involves no risks or discomfort, and participation includes a signed consent form. The results aim to support better diagnosis, management, and prevention of life-threatening arrhythmias over the study period.

This research focuses on pregnancies at high risk for fetal demise, a tragic event where the fetus dies unexpectedly in the later stages of pregnancy. Researchers are studying five specific conditions linked to increased risk: major congenital heart defects in the fetus, fetal hydrops, monochorionic twin pregnancies, prior pregnancy loss due to fetal demise, and gastroschisis. The goal is to detect hidden heart rhythm abnormalities that might contribute to fetal demise by using a novel, non-invasive monitoring technique called fetal magnetocardiography (fMCG). The study involves detailed heart monitoring using fMCG at two points during pregnancy, approximately between 20-27 weeks and again between 30-37 weeks of gestation. After birth, a neonatal electrocardiogram (nECG) will be performed on the infant within the first 4 weeks of life. These assessments will measure heart rate variability, cardiac conduction, and repolarization patterns to identify any electrophysiological abnormalities. There is also a substudy evaluating how maternal and infant genetics affect medication metabolism related to heart rhythm treatments. Participants will undergo multiple procedures lasting 1 to 3 hours while reclining comfortably for the fMCG recordings. Researchers will compare the fetal heart monitoring results with neonatal ECG data and review medical records to confirm diagnoses and outcomes. The study aims to identify specific heart patterns that could predict fetal demise, helping to improve monitoring and care for high-risk pregnancies. Participants may receive compensation and travel reimbursement for their involvement, and local or home ECGs are available for those traveling long distances.

Researchers are conducting a multi-centre observational study focused on children with rare inherited cardiac conditions, particularly those diagnosed with cardiomyopathy before age 16. The study aims to better understand the genetic and environmental factors influencing these heart muscle diseases, including disease progression and response to treatments. By collecting genetic information and clinical data, the study seeks to identify new personalized treatment options for affected children. Participants include children with diagnosed inherited cardiac conditions and their parents. The study collects baseline demographic, imaging, and genotyping data primarily from routine clinical care, including whole genome sequencing. Some participants may provide blood or saliva samples for genetic and biomarker analysis. Family members of deceased patients might also donate stored tissue or samples if available. The study plans to follow participants over a 5-year period. During the study, researchers will access clinical data including health information and results from routine tests like echocardiograms. Some procedures may involve minimal risk, such as blood or saliva collection. The study focuses on monitoring the participants' health outcomes and genetic markers to understand disease progression. The total follow-up duration for each participant is up to five years, with data collected throughout this period.

Researchers are developing a registry of Brazilian patients with hereditary cardiovascular diseases by combining clinical information and genetic data. The study aims to identify which genes are most commonly affected and the frequency of these genetic changes within this population. The registry will help advance understanding and healthcare for hereditary heart conditions in Brazil's public health system. Participants will be interviewed during their routine medical visits, and their DNA will be collected using buccal swabs for whole genome sequencing. This observational study does not involve any treatment but focuses on gathering detailed genetic and clinical data to better characterize hereditary cardiovascular diseases. The study is planned to run for 30 months starting from April 2025. During the study, participants will provide information through interviews and give DNA samples for sequencing. Researchers will measure diagnostic yield, genetic diversity, and variant frequency over the 30 months. The study does not involve additional interventions beyond data and sample collection, and participants will continue their usual medical care throughout the study period.

Researchers are studying individuals with rare genetic changes linked to neurodevelopmental disorders and features of autism through an international, observational research program called Simons Searchlight. This program aims to gather detailed medical, behavioral, learning, and developmental information to enhance clinical care and treatment for people with these genetic differences. The study is supported by the Simons Foundation, which focuses on finding science-based solutions to improve lives. Participants join remotely via an online platform or phone, allowing English and Spanish-speaking families worldwide to take part at convenient times. They may provide blood or saliva samples, which are connected to their health and developmental data for research purposes. The collected information is anonymized and shared with qualified scientists globally to advance understanding of specific gene changes. During the study, baseline data is collected over about one month, with ongoing follow-up data gathered regularly to track changes over time. Participants provide comprehensive information about their medical, behavioral, learning, and developmental status. The study does not involve treatment but focuses on detailed data collection to support research. Participation can continue long-term, helping researchers monitor and learn from these rare genetic variants.

Researchers are collecting detailed information on patients diagnosed with Brugada syndrome at UZ Brussel hospital. The goal is to gather comprehensive data including demographics, clinical history, family history, genetic information, and results from various heart and brain imaging tests. This observational registry aims to understand the condition better over time. Participants' data will include age, sex, height, weight, body mass index, comorbidities, arrhythmias history, and device implantations like pacemakers or defibrillators. Family history including sudden death incidents, genetic mutation data, and diagnostic imaging such as ECG, echocardiography, CT scans, MRI of the heart and brain, ECG imaging, and 3D electroanatomical mapping will also be collected. Participants will be monitored for outcomes including ventricular arrhythmias, atrial fibrillation, overall death, cardiovascular death, and genetic mutations. These outcomes will be tracked throughout the study, averaging 10 years of follow-up. No active intervention is given as this is a patient registry. The study collects comprehensive long-term observational data to improve understanding of Brugada syndrome.