Brugada Syndrome

Every week in the UK, 12 apparently healthy and fit individuals under the age of 35 die suddenly, a tragic event known as sudden cardiac death (SCD). The investigators have shown that heritable cardiac disorders affect the distribution of proteins at the cardiac cell-cell junctions, the areas where cardiac cells are mechanically and electrically coupled. This knowledge has helped the investigators diagnose specific heart disorders in individuals thus reducing the risk and incidence of SCD. Yet, the primary material required is a heart sample. A heart biopsy is an invasive process that comes with risks and is not performed unless absolutely necessary. And it is impossible to obtain a heart sample from an individual that may be carrying a disease-causing mutation (and hence be at risk of SCD) but does not yet show evidence of disease manifestation. The investigators recently showed that buccal cells show changes in protein distribution equivalent to those exhibited by the heart,hence providing them with a surrogate tissue for the myocardium. The investigators aim to use buccal smears as a means to identify those at risk of SCD. Patients regularly seen at the cardiology clinics at St. George's Hospital can participate in the study. The investigators shall take a buccal smear simply by rubbing a soft brush at the inside of their cheek and smearing it on a slide. Most individuals willing to participate in the study will only have to provide the investigators with a sample once. However, in selected cases (for instance, if the patients show disease progression or have a change in medication) they may be asked to provide the investigators with a subsequent sample during one of their scheduled follow-up visits. The process takes only a few seconds, is totally risk- and pain-free and it is anticipated to have great implications in diagnosis and patient management.

The goal of this observational study is to develop a registry of Brazilian patients with hereditary cardiovascular diseases, combining clinical and genomic data. The main questions it aims to answer are: Which genes are most commonly affected? What is the frequency of these genetic alterations in our population? Participants will be interviewed in routine medical care visits and their DNA will be sequenced.

Each year world-wide, 2.5 million fetuses die unexpectedly in the last half of pregnancy, 25,000 in the United States, making fetal demise ten-times more common than Sudden Infant Death Syndrome. This study will apply a novel type of non-invasive monitoring, called fetal magnetocardiography (fMCG) used thus far to successfully evaluate fetal arrhythmias, in order to discover potential hidden electrophysiologic abnormalities that could lead to fetal demise in five high-risk pregnancy conditions associated with fetal demise.

Independent, single center, prospective study, to evaluate the efficacy, in consecutive BrS patients undergoing catheter ablation, at medium-long term follow-up after epicardial substrate homogenization. The target area is defined collecting signals using high density and high resolution mapping with equi-spaced electrode array. The ablation of abnormal fragmented prolonged low-frequency ventricular electrograms is performed by contact force catheter.

The "Long-term Outcome and Predictors for Recurrence after Medical and Interventional Treatment of Arrhythmias at the University Heart Center Hamburg" (TRUST) study is an investor-initiated, single-center, prospective clinical cohort study including patients treated with cardiac arrhythmias or at high risk for cardiac arrhythmias. The design enables prospective, low-threshold, near complete inclusion of patients with arrhythmias treated at the UHZ. Collection of routine follow-up data, detailed procedural information and systematic biobanking will enable precise and robust phenotyping.

The goal of this observational study is to evaluate if there are differences in DNA methylation of peripheral blood in patients with Brugada syndrome and healthy subjects. The main question it aims to answer is: Does DNA methylation changes distinguish Brugada patients from healthy controls? Does DNA methylation changes distinguish Brugada patients with high versus low risk of sudden cardiac death?

The monocentric UZB registry for Brugada registry is intended to collect all data on patients affected by Brugada syndrome at UZ Brussel hospital (UZB).