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Genetic and Rare Diseases Information Center (GARD)

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Brugada syndrome


Other Names for this Disease

  • Right bundle branch block, ST segment elevation, and sudden death syndrome
  • Sudden unexpected nocturnal death syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My 32 year old son was just diagnosed with Brugada syndrome. The cardiologist who implanted his ICD will do genetic testing I think. Is it possible to determine from my son's test whether there is a paternal or maternal link? Or does each of the parents need to be tested? My father died in his forties from cardiac arrest and his youngest sister died at age 22 from cardiac arrest.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How is Brugada syndrome inherited?

Brugada syndrome is inherited in an autosomal dominant manner. This means that having one mutated copy of the responsible gene in each cell is enough to cause signs or symptoms. Almost all people with Brugada syndrome have one parent with the condition. In about 1% of cases, an affected person has a new mutation in the responsible gene and has no family history of the condition.[1]

Unsymptomatic parents of an affected person should be evaluated with electrocardiography, and any family history of sudden death should be discussed. If a mutation is identified in the affected person, genetic testing of the parents is recommended. A family history may appear to be negative due to reduced penetrance, death of a parent before symptoms start, or late onset of symptoms in an affected parent.[1]

Each child of an affected person has a 50% chance to inherit the mutated gene. The risk to other family members depends on whether a parent carries the mutation and is affected.[1]
Last updated: 4/22/2014

How can we learn from which parent a person inherited Brugada syndrome?

In almost all cases, a person with Brugada syndrome inherits the condition from a parent who has a mutated copy of one of the genes responsible for the condition. In about 1% of cases, the condition results from a new (de novo) mutation that occurs for the first time in the affected individual.[1]

Mutations that cause Brugada syndrome have been found in 16 different genes. However, only about 25% to 30% of cases are caused by a mutation in one of these genes (usually the SCN5A gene). This means that there are likely mutations in other, unidentified genes that cause Brugada syndrome.[1] This also means that 70-75% of affected people will not test positive for a mutation when they have genetic testing.

If a genetic mutation is found in an affected family member, genetic testing of both parents and other at-risk relatives is appropriate.[1] Genetic testing only in the affected person does not show where the mutation came from.

If a mutation in an affected person is not found, relatives should be screened with an ECG, and further testing may be needed in some cases.[1] Attention to a family history of sudden death can be important in determining who may be at risk for the condition.[1]

People interested in learning more about the inheritance of Brugada syndrome and genetic testing should speak with a genetics professional.
Last updated: 4/23/2014

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 6/5/2014

References
Other Names for this Disease
  • Right bundle branch block, ST segment elevation, and sudden death syndrome
  • Sudden unexpected nocturnal death syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.