Brugada SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Brugada Syndrome
Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is an abnormality called ventricular arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death. These complications typically occur when an affected person is resting or asleep.
Brugada syndrome can be caused by mutations in one of several genes. The most commonly mutated gene in this condition is SCN5A, which is altered in approximately 30 percent of affected individuals. This gene provides instructions for making a sodium channel, which normally transports positively charged sodium atoms (ions) into heart muscle cells. This type of ion channel plays a critical role in maintaining the heart's normal rhythm. Mutations in the SCN5A gene alter the structure or function of the channel, which reduces the flow of sodium ions into cells. A disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of Brugada syndrome.
The exact prevalence of Brugada syndrome is unknown, although it is estimated to affect 5 in 10,000 people worldwide. This condition occurs much more frequently in people of Asian ancestry, particularly in Japanese and Southeast Asian populations.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
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Dan Roden is a Cardiologist practicing medicine in Nashville, Tennessee. Dr. Roden is rated as an Elite provider by MediFind in the treatment of Brugada Syndrome. He is also highly rated in 16 other conditions, according to our data. His clinical expertise encompasses Long QT Syndrome 5, Long QT Syndrome, Brugada Syndrome, Cardiac Ablation, and Percutaneous Coronary Intervention (PCI).
Connie Bezzina practices practicing medicine in Amsterdam, Netherlands. Ms. Bezzina is rated as an Elite expert by MediFind in the treatment of Brugada Syndrome. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Brugada Syndrome, Ventricular Fibrillation, Long QT Syndrome, and Cardiomyopathy.
Martin Borggrefe practices practicing medicine in Mannheim, Germany. Mr. Borggrefe is rated as an Elite expert by MediFind in the treatment of Brugada Syndrome. He is also highly rated in 22 other conditions, according to our data. His clinical expertise encompasses Short QT Syndrome, Brugada Syndrome, Ventricular Fibrillation, Percutaneous Coronary Intervention (PCI), and Cardiac Ablation.
Summary: 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...
Summary: 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 ...
Published Date: March 01, 2015
Published By: National Institutes of Health