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Brugada Syndrome

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Overview

What is Brugada Syndrome (BrS)?
Brugada syndrome is a rare heart condition, where the rhythm of the heart is not normal. Specifically, the cardiac muscle of the ventricles in the heart are not coordinated – this is called ventricular arrhythmia. Some people with BrS can have symptoms such as fainting, seizures or difficulty breathing. However, many people with the condition will not have any symptoms, and may not realize they have the disease. Early diagnosis is important because BrS can lead to sudden death in adults during sleep (sudden unexplained nocturnal death syndrome or SUNDS), and it has also been linked to sudden infant death syndrome (SIDS).

Brugada syndrome can be identified by recording electrical activity in the heart through electrocardiogram (ECG). Genetic testing can be used to identify people at risk of getting Brugada syndrome. At least 16 genes have been associated with BrS, but the most common is a gene called SCN5A.

Brugada syndrome is treatable. The main treatment is to place a small device in the heart, which delivers small electrical shocks. This is called an implantable cardioverter-defibrillator (ICD). If a person is using an ICD, there are several drugs that can be used to avoid problems with electrical activity in the heart - two of the most common are called isoproterenol and quinidine.

The Risk of Brugada Syndrome and Heart Problems is Increased in People with a SCN5A risk gene. Source: Brugada et al. Gene Reviews 2014. Images created by Iconarray.com. Risk Science Center and Center for Bioethics and Social Sciences in Medicine, University of Michigan. Accessed 2016-06-20.

What is the genetic test?
Genetic testing allows us to identify people with a risk of developing Brugada Syndrome. The gene most closely linked to BrS is called SCN5A. People with known genetic risk factors in SCN5A have a much greater risk (20%-30%) of developing the disease, and approximately an 80% chance of having abnormal heart rhythms. These genes are also associated with a greater risk of developing other heart conditions, including Long QT syndrome. Although SCN5A is most strongly linked to Brugada Syndrome, there are many other genes that are associated with increased risk, and for other heart problems.

How will this affect my health care?
If testing shows that you may have a genetic difference in SCN5A genes associated with Brugada Syndrome, it is important that you talk with your doctor of genetic counselor as soon as you can. There are a number of treatment and health management options available to you, and you may also want to think about family members that might also be at risk.

Who is at risk?
In the general population, the risk of developing Brugada Syndrome is approximately 1 in 2000. For individuals with a SCN5A risk gene, the chance of developing BrS is 20 to 30 in 100, and the risk of having abnormal heart rhythms is 80 in 100. Many people diagnosed with Brugada syndrome have a parent with the condition. If you have been diagnosed with BrS related to the SCN5A gene, and have a child or children, each child has a 50% chance of inheriting the risk gene. People are also more likely to develop BrS if they:

  • Are male - BrS is 8 times more common in men than women
  • Are Asian - People with ancestry from Southeast Asia are more than twice as likely to have BrS.

Does my ancestry affect my risk?
Yes, people with ancestry from Southeast Asia are at increased risk.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Treatment

ABrugada syndrome is treatable. The main treatment is to place a small device in the heart, which delivers small electrical shocks.

What are the treatments for Brugada Syndrome?
The main treatment for Brugada Syndrome is to place a small device in the heart, which delivers small electrical shocks. This device is called an implantable cardioverter-defibrillator (ICD). The decision on whether to use an ICD will depend on how severe heart problems are in each patient.

If a person requires an ICD, the device will be surgically placed under the skin near their collarbone, and then attached to the heart through small electrical cables. This will involve about two days in hospital.

Several drugs can be used to avoid problems with electrical activity that are delivered by an ICD – two of the most common are called isoproterenol and quinidine. Other drugs that can help control the electrical activity are dysopiramide and orciprenaline. Tedisamile and dimethyl lithospermate have also been used.

Can Brugada Syndrome treatments cause any problems?
Placing the ICD in the body can be complicated, and the surgery to install the device can sometimes be life-threatening. Using an ICD can also be problematic. Two of the most common problems are 1) a low rate of appropriate shocks, which happens about 8% to 15% of the time, and 2) a high rate of inappropriate shocks, which happens about 20% to 30% of the time.
Important steps to avoid experiencing problems with an ICD include avoiding competitive sports and limiting many other types of sporting activity.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Genetic Test

Why do a genetic test?
A major reason people develop Brugada Syndrome is that they inherit a faulty gene that causes it. Genetic testing tells us who is most at risk for developing BrS. Testing for certain genes is particularly important if they are considered to be 'medically actionable' - meaning test results can be used to improve health care.

In the embedded video, Dr. Dan Roden of Vanderbilt University discusses how genetic testing has begun to influence treatment of patients.

What is the test?
There are several types of genetic tests for Brugada Syndrome. All genetic tests look at your DNA to try to identify faulty genes previously associated with BrS.

Many of the people who use this website are patients in hospitals who are part of the eMERGE network. These hospitals are using DNA sequencing to test patients for a number of diseases, including BrS, as recommended by the American College of Medical Genetics and eMERGE network members. Test results found to be medically ‘actionable’ (meaning they can be used to in patient health care) will be returned to patients.

Other types of testing for BrS include monitoring the heart with an electrocardiogram (ECG), while taking a family history is also very important. To record an ECG, a doctor or other health care professional will place several probes on a person's chest, and these can pick up electrical signals coming from a heart beat. If these signals are not regular, it suggests that there may be a problem with the heart's rhythm or structure. You can find out more about testing for BrS in the links under Resources.

I am concerned whether I should be tested or not, what should I do?
The decision to be tested might be one of the most important decisions you have to make. There are many things you may want to consider. For some people, genetic testing can have positive health benefits, while others may feel a lot of stress and worry. You can read more about these issues in the Concerns & Risks section. It may help to think about testing for a while before making a decision. You may also find it helpful to discuss issues with those close to you, or with your doctor/health professional.

What will the test result mean?
This test will tell your doctor whether you are at increased risk of developing heart problems including Brugada Syndrome. We test for a number of other diseases, as recommended for testing by the American College of Medical Genetics and the eMERGE network. If you are found to be at risk, your doctor or genetic counselor should help you understand your health care options.

What happens if I am found to be at risk?
If you are found to be at risk for any of the diseases that we test for, a health professional at your local site will attempt to contact you as soon as possible. Once we contact you, your doctor or genetic counselor should help you understand your health care options.

What happens if I am NOT found to be at risk?
If you are found NOT to be at risk for any of the diseases that we test for, you will likely NOT be contacted. However, a small number of patients may receive a medical report with results, while other patients may be re-contacted about another research study

If you have not been rec-contacted, please DO NOT ASSUME that you have been tested. There are a number of reasons testing may not have happened yet. For example, studies can sometimes take a very long time to complete, and DNA samples are often not usable because of quality-control issues.

How is the test being performed?
Testing is performed on your DNA, usually from a blood sample. For many patients, your hospital or treatment center may already have some of your DNA stored in a biobank. You may be asked for an additional sample or be asked to give us permission to do testing on the existing samples.

Will it hurt?
For some patients, we may need an additional blood sample. Taking blood may cause some pain, bleeding or bruising at the spot where the needle enters your body. Rarely, taking blood may cause fainting or infection.

Is it safe?
There is a risk that you may experience pain or bleeding if you need to give an additional blood sample. Risks concerning privacy are discussed under Concerns & Risks.

How long will I have to wait for results?
Unfortunately, we cannot give an accurate estimate for the time you will have to wait for results - this will depend on the resources available at the location where you receive treatment and were tested.

Is this a standard test?
Although increasingly more common, this test is not yet standard, and is typically offered as part of a research study.

What type of test is this?

  • Is this test intended to help make a diagnosis? Yes
  • Is this test intended to predict a family history of disease? Yes
  • Is this test intended to check if I am a carrier for a particular disease? Yes
  • Is this test intended to screen for genetic disorders? Yes
  • Is this test intended to screen for disorders related to pregnancy? No
  • Is this test intended to screen for disorders related to newborns? No

Will I need to have this test done more than once?
No, you should not need to have this test done more than once. You will need to keep track of your testing result in order to share with all of your doctors, including those you see at other medical care centers.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Family

Will my genetic test results affect my family?
Your genetic test results may affect your family. In the embedded video, Maureen Smith, a researcher at Northwestern University, recommends first discussing genetic test results with your doctor. Your doctor may refer you to a genetic counselor, who can help you understand test results and guide you toward brochures and websites that can provide information for both you and your family.

  • Before your genetic test: Because genetic information is inherited, it is important to be aware that your genetic test results are often relevant to your family members as well. Results may indicate that you are at risk, or that you are a carrier (see below). Before you have a genetic test, it can be a good idea to think about if and how you would like to share results with your family. Your doctor or genetic counselor should be able to provide more information about this.
  • After your genetic test: For many of the diseases we test for, genetic test results may be relevant to your family members, as well as to you. You may be at risk, and you may be a carrier (see below). If you already have results, it is again important to think about sharing them with family. Again, your doctor or genetic counselor should be able to offer advice on how genetic testing may affect your family members.

Can you (briefly) explain heritability?
We each have about 24,000 genes, which carry the instructions for making and maintaining our bodies. For each gene we typically have two copies – one inherited from each parent. If genetic test results suggest you are at risk of developing a heritable disease, you will have inherited the risk from one or both your parents. Your brothers, sisters, children, parents, and other relatives may also be at risk of developing the same disease.
There are several ways we can inherit a genetic disease, which relates to whether it is recessive or dominant.

  • For a dominant condition, only one copy of a gene needs to be faulty to cause a disease. In this case, if you have one copy of a faulty gene, you may be at high risk of developing the disease. You could pass this faulty gene to one your child or children.
  • For a recessive condition BOTH copies of a gene must be faulty to cause a disease. In this case, if a person has only one copy of a faulty gene, they may not be at much greater risk. However, they may pass the faulty gene to their children. Again, this person is called a carrier.
Please note that the Resources section provides links to a number of websites that provide a much more detailed explanation of inheritance! Learn.Genetics at the University of Utah have a much more detailed explanation, which we find quite good – you can check it out here.

What is a carrier?
As described above, each of us has two copies of each gene. For recessive genetic conditions, BOTH copies of the gene need to be faulty for the person to be at risk of developing the disease. If a person inherits one faulty copy and one normal copy, they are called a carrier. Although they should not be at greater risk, they may pass the faulty gene copy to their child or children. If they do, and the child also inherits a faulty gene copy from the other parent, that child will be at risk of developing the disease.

What family members could be affected?
If you have Brugada Syndrome, there is a 50% your child will too. Other family members are also at a much higher risk of having BrS.

My children are under 18 years of age – should they be tested?
Experts differ on whether children should be tested for risk of developing genetic disease. Their answer will often depend on the disease. The American College of Medical Genetics recommend testing children for most of the diseases listed on this website. For several of these diseases, no effective therapies exist until the child becomes an adult:

  • Some experts believe that if genetic results will not affect a child’s health care until they become an adult, they should not be carried-out. They may also point out that children are not yet old enough to decide for themselves whether they want such information.
  • Other experts believe that even if genetic results cannot affect a child’s health care until later in life, they should be carried out, as the test results may help the child make informed health care decision when they do become an adult. They may also point out that the opportunity to perform the genetic test may not arise again.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Concerns & Risks

What Should I Do If I Have Concerns About Genetic Test Results?
If you are concerned about genetic test results you have received, you should discuss your concerns with your doctor. Your doctor should be able to explain results to you, and may recommend you to a genetic counselor or another doctor that can further help you understand your results. Maureen Smith, a researcher at Northwestern University, discusses these concerns in the embedded video.

Is there a reason why I may be a specific risk?
For most of the disorders discussed on this site, the American College of Medical Genetics recommends genetic testing for individuals with available genetic data.

Are there any implications for having children?
Yes, please see the Family section

Can I expect to experience emotional consequences related to my test result?
A range of reactions are possible and normal. Some patients may experience anxiety or other negative reactions related to their genetic results. If this is the case, please discuss with your doctor, who can address your concerns and refer you another health professional if required.

Can I expect to experience social consequences related to my test result?
Some people may feel that there is a stigma attached to having a genetic disease. If you do experience or anticipate any negative social reactions, please discuss with your doctor who can address your concerns.

Can I expect to experience an increase in anxiety?
Many individual experience increased anxiety related to genetic testing. Again, please discuss with your doctor if this is the case.

Are there any implications in terms of discrimination arising from the test result?
Health insurance companies are prevented by law from discriminating against you based on your genetic test results. However, the same law does not apply to long-term disability insurance or to life insurance. Maureen Smith, a researcher at Northwestern University discussed these issues in the video on this page.

If I am found to be at increased risk for developing a disease, are there similar health implications for my family?
Yes, your results may have similar health implications for your family. Please see the Family section.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Sharing

Should I tell other health care providers about my test result?
We do recommend that you share your genetic test information with your doctor. However, as explained by Maureen Smith, a researcher at Northwestern University, what you decide to do with your results is up to you.

Who will see my test results?
People who have access to your medical record will be able to see your genetic test result. This may include health professionals such as doctors, nurses, pharmacists, and genetic counselors. However, health professionals from other centers or hospitals will likely not have access to your results.

Should my other family members be tested?
If you are found to be at risk for a heritable genetic disease, your family may also be at risk. We discuss this further in the Family section.

Will this affect my health insurance?
No, your health insurance will not be affected by this test result. However, as discussed below by Maureen Smith, a researcher at Northwestern University, your life insurance and other areas may be affected.

Who can I contact if they have any more questions?
You can contact your local center, where you received the test. The Resources section also includes a lot of websites that we recommend..

Is it there a risk to my privacy?
Research that uses information from medical records and that involves genetic testing can affect your privacy. Your participation in this research will be held strictly confidential, and only coded numbers will be used to identify specimens and research records. While it is impossible to absolutely guarantee that information in our secure system will never be known by others, we are taking every possible precaution to see that this does not happen.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Resources

We are compiling a list of websites to help you understand genetics and genetic test results. If you would like to suggest other resources for this section, please feel free to This email address is being protected from spambots. You need JavaScript enabled to view it.!
INFORMATION ABOUT BRUGADA SYMDROME:

Weblink to Mayo Clinic's Brugada Syndrome PagesMayo Clinic Patient Health Care and Info
Great patient resources, with lots of useful information about a wide range of diseases. The Brugada Syndrome pages are particularly good, and have very useful information on causes, diagnosis, and treatment.


Weblink to The British Heart FoundationThe British Heart Foundation
Founded in 1961 by a group of medical professionals, the BHF website has a large online catalog on all things heart-related.


INFORMATION ABOUT GENETICS AND GENETIC TESTING:

Weblink to Genetics Home Reference Genetics Home Reference
Consumer-friendly information about the effects of genetic variations on human health. Federally-supported resources, include reviews of more than 800 genetic diseases and more than 1000 genes.


Weblink to Learning Resources from the NHGRILearning Resources from the NHGRI
Lots of very good resources from the NHGRI, including major sections about The Human Genome Project, Facts Sheets, and educational resources for teachers and students.


Weblink to National Society of Genetic CounselorsFind a Genetic Counselor
The National Society of Genetic Counselors have a searchable database of genetic counselors. Their website also includes some education materials for patients and healthcare professionals.


Weblink to NHGRI Talking GlossaryNHGRI Talking Glossary
Talking glossary of genetic terms developed by the National Human Genome Research Institute. A huge range of definitions is provided by researchers from around the world.


Weblink to Help Me Understand GeneticsHelp Me Understand Genetics
Help Me Understand Genetics is a handbook from the National Institutes of Health that contain useful information about genetics in clear language and provides links to even more online resources. The entire handbook can also be downloaded as a pdf.


Weblink to the Genetic and Rare Diseases Information CenterGenetic and Rare Diseases Information Center (GARD)
A joint project from The Office of Rare Diseases Research (ORDR) and the National Human Genome Research Institute (NHGRI) that provides searchable information about genetic conditions and rare diseases. It also includes a list of FDA-Approved drugs and other medical products for treating rare disease.


Weblink to NORDNational Organization for Rare Disorders - Resources for Parents/Families
The National Organization for Rare Disorders (NORD) is a volunteer organization dedicated to empowering the rare disease community. Again, they have some very nice web resources.


Weblink to ELSIEthical, Legal and Social Implications Research Program
The ELSI Research Program supports examinations and investigations of the ethical, legal and social implications of genetics research.


Weblink to GINAGenetic Information Nondiscrimination Act of 2008
The Genetic Information Nondiscrimination Act of 2008, also referred to as GINA, is a new federal law that protects Americans from being treated unfairly because of differences in their DNA that may affect their health.


Weblink to Learn.GeneticsLearn.Genetics, University of Utah
Excellent resources, especially for those involved in education. Includes a catalog of animations, videos, interactive features, and virtual labs.


Weblink to the Dolan DNA Learning CenterDolan DNA Leaning Center
The DNALC provides genetics learning resources for teachers and students.


INFORMATION FOR RESEARCHERS:

Weblink to the ClinVar ACMG recommendations pageClinVar: ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing
Clinvar's dedicated ACMG page - a useful jumping-off point to the Genetic Testing Registry, OMIM, MedGen, and local ClinVar pages for each gene.


Weblink to NCBI GeneReviews BrugadaGene Reviews
R Brugada et al. Gene Reviews: Brugada Syndrome (updated April, 2014)


About

What is the purpose of this information?
Our aim is to provide information about why we do genetic testing. We try to answer some common questions and offer guidance on some personal and practical issues. This information is for anybody with questions about genetic testing for any of the diseases and drugs listed in this site.

Are there geographical differences in testing, service or treatment?
Different centers have different policies in terms of how tests are administered and results shared. However, the results discussed in this document should be relevant to most individuals tested for risk of developing genetic disease.

How is this paid for?
If you received this test as part of the eMERGE research study, neither you nor your insurance company will have to pay anything toward this test

When was this content last updated?
June 20, 2016.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.
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